共 22 条
[1]
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines
[J].
Albokhari, Daniah
;
Ng, Bobby G.
;
Guberinic, Alis
;
Daniel, Earnest James Paul
;
Engelhardt, Nicole M.
;
Barone, Rita
;
Fiumara, Agata
;
Garavelli, Livia
;
Trimarchi, Gabriele
;
Wolfe, Lynne
;
Raymond, Kimiyo M.
;
Morava, Eva
;
He, Miao
;
Freeze, Hudson H.
;
Lam, Christina
;
Edmondson, Andrew C.
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2022, 45 (05)
:969-980

Albokhari, Daniah
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA
Taibah Univ, Coll Med, Dept Pediat, Medina, Saudi Arabia Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Ng, Bobby G.
论文数: 0 引用数: 0
h-index: 0
机构:
Sanford Burnham Prebys, Human Genet Program, La Jolla, CA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Guberinic, Alis
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Clin Genom, Rochester, MN USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Daniel, Earnest James Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Engelhardt, Nicole M.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

论文数: 引用数:
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Fiumara, Agata
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Catania, Pediat Clin, Dept Clin & Expt Med, Catania, Italy Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Garavelli, Livia
论文数: 0 引用数: 0
h-index: 0
机构:
Local Hlth Author AUSL Reggio Emilia Res Unit IRC, Arcispedale Santa Maria Nuova, Mother & Child Dept, Med Genet Unit, Reggio Emilia, Italy Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Trimarchi, Gabriele
论文数: 0 引用数: 0
h-index: 0
机构:
Local Hlth Author AUSL Reggio Emilia Res Unit IRC, Arcispedale Santa Maria Nuova, Mother & Child Dept, Med Genet Unit, Reggio Emilia, Italy Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Wolfe, Lynne
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Undiagnosed Dis Program, Common Fund, Bldg 10, Bethesda, MD 20892 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Raymond, Kimiyo M.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Morava, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Clin Genom, Rochester, MN USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

He, Miao
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Freeze, Hudson H.
论文数: 0 引用数: 0
h-index: 0
机构:
Sanford Burnham Prebys, Human Genet Program, La Jolla, CA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Lam, Christina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA
Seattle Childrens Res Inst, Ctr Integrated Brain Res, Seattle, WA USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA

Edmondson, Andrew C.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Sect Metab, Philadelphia, PA 19104 USA
[2]
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases
[J].
Aleksovska, Katina
;
Kobulashvili, Teia
;
Costa, Joao
;
Zimmermann, Georg
;
Ritchie, Karen
;
Reinhard, Carola
;
Vignatelli, Luca
;
Fanciulli, Alessandra
;
Damian, Maxwel
;
Pavlakova, Lucia
;
Burgunder, Jean-Marc
;
Kopishinskaya, Svetlana
;
Rakusa, Martin
;
Kovacs, Norbert
;
Erdogan, Fusun Ferda
;
Linton, Lori Renna
;
Copetti, Massimiliano
;
Lamperti, Costanza
;
Servidei, Serenella
;
Evangelista, Theresina
;
Ayme, Segolene
;
Pareyson, Davide
;
Sellner, Johann
;
Krarup, Christian
;
de Visser, Marianne
;
van den Bergh, Peter
;
Toscano, Antonio
;
Graessner, Holm
;
Berger, Thomas
;
Bassetti, Claudio
;
Vidailhet, Marie
;
Trinka, Eugene
;
Deuschl, Guenther
;
Federico, Antonio
;
Leone, Maurizio A.
.
EUROPEAN JOURNAL OF NEUROLOGY,
2022, 29 (06)
:1571-1586

论文数: 引用数:
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Kobulashvili, Teia
论文数: 0 引用数: 0
h-index: 0
机构:
Paracelsus Med Univ, Christian Doppler Univ Hosp, Dept Neurol, Affiliated Partner ERN EpiCARE, Salzburg, Austria European Acad Neurol, Vienna, Austria

Costa, Joao
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lisbon, Fac Med, Inst Med Mol, Lab Farmacol Clin & Terapeut, Lisbon, Portugal European Acad Neurol, Vienna, Austria

Zimmermann, Georg
论文数: 0 引用数: 0
h-index: 0
机构:
Paracelsus Med Univ, Christian Doppler Univ Hosp, Dept Neurol, Affiliated Partner ERN EpiCARE, Salzburg, Austria
Paracelsus Med Univ, IDA Lab Salzburg, Team Biostat & Big Med Data, Salzburg, Austria
Paracelsus Med Univ, Dept Res & Innovat, Salzburg, Austria European Acad Neurol, Vienna, Austria

Ritchie, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
Healthcare Improvement Scotland, Glasgow, Lanark, Scotland European Acad Neurol, Vienna, Austria

Reinhard, Carola
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
Univ Hosp Tubingen, Ctr Rare Dis, Tubingen, Germany European Acad Neurol, Vienna, Austria

Vignatelli, Luca
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Ist Sci Neurol Bologna, Bologna, Italy European Acad Neurol, Vienna, Austria

Fanciulli, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria European Acad Neurol, Vienna, Austria

Damian, Maxwel
论文数: 0 引用数: 0
h-index: 0
机构:
Cambridge Univ Hosp, Neurol & Neurointens Care, Cambridge, England
Ipswich Hosp, Cambridge, England European Acad Neurol, Vienna, Austria

Pavlakova, Lucia
论文数: 0 引用数: 0
h-index: 0
机构:
European Acad Neurol, Vienna, Austria European Acad Neurol, Vienna, Austria

Burgunder, Jean-Marc
论文数: 0 引用数: 0
h-index: 0
机构:
Neurozentrum Siloah AG, Swiss Huntington Ctr, Gumlingen, Switzerland
Univ Bern, Dept Neurol, Bern, Switzerland European Acad Neurol, Vienna, Austria

Kopishinskaya, Svetlana
论文数: 0 引用数: 0
h-index: 0
机构:
Nizhny Novgorod State Med Acad, Niznij Novgorod, Russia European Acad Neurol, Vienna, Austria

Rakusa, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Maribor, Dept Neurol, Maribor, Slovenia European Acad Neurol, Vienna, Austria

Kovacs, Norbert
论文数: 0 引用数: 0
h-index: 0
机构:
Ss Cyril & Methodius Univ, Med Fac, Clin Neurol, Skopje, North Macedonia
Univ Pecs, Med Sch, Dept Neurol, Pecs, Hungary European Acad Neurol, Vienna, Austria

Erdogan, Fusun Ferda
论文数: 0 引用数: 0
h-index: 0
机构:
Erciyes Univ, Dept Neurol, Melikgazi Kayseri, Turkey European Acad Neurol, Vienna, Austria

Linton, Lori Renna
论文数: 0 引用数: 0
h-index: 0
机构:
Federat Natl Grp Related Hereditary Spast Paraple, EuroHSP, Paris, France European Acad Neurol, Vienna, Austria

Copetti, Massimiliano
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Casa Sollievo Sofferenza, Unit Biostat, San Giovanni Rotondo, Italy European Acad Neurol, Vienna, Austria

Lamperti, Costanza
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ist Neurol C Besta, Div Med Genet & Neurogenet, Milan, Italy European Acad Neurol, Vienna, Austria

Servidei, Serenella
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Fdn Policlin Univ IRCCS Roma, Milan, Italy European Acad Neurol, Vienna, Austria

Evangelista, Theresina
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Univ La Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Paris, France
Sorbonne Univ, Ctr Reference Malad Neuromusculaires Nord Est Ile, AP HP, Inserm UMRS 974, Paris, France European Acad Neurol, Vienna, Austria

Ayme, Segolene
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Paris Brain Inst ICM, Inserm U 1127, CNRS,UMR 7225, Paris, France European Acad Neurol, Vienna, Austria

Pareyson, Davide
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ist Neurol Carlo Besta, Dept Clin Neurosci, Unit Rare Neurodegenerat & Neurometab Dis, Milan, Italy European Acad Neurol, Vienna, Austria

Sellner, Johann
论文数: 0 引用数: 0
h-index: 0
机构:
Landesklinikum Mistelbach Ganserndorf, Dept Neurol, Mistelbach, Austria European Acad Neurol, Vienna, Austria

Krarup, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Rigshosp, Dept Clin Neurophysiol, Clin Neurophysiol, Copenhagen, Denmark
Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark
Univ Copenhagen, Dept Neurosci, Copenhagen, Denmark European Acad Neurol, Vienna, Austria

论文数: 引用数:
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van den Bergh, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp St Luc, Neuromuscular Reference Ctr UCL St Luc, Brussels, Belgium European Acad Neurol, Vienna, Austria

Toscano, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
AOU Policlin Messina, Neurol & Neuromuscular Disorders Unit, Dept Clin & Expt Med, Messina, Italy European Acad Neurol, Vienna, Austria

Graessner, Holm
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
Univ Hosp Tubingen, Ctr Rare Dis, Tubingen, Germany European Acad Neurol, Vienna, Austria

Berger, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Neurol, Vienna, Austria European Acad Neurol, Vienna, Austria

Bassetti, Claudio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Med Fac, Neurol Dept, Bern, Switzerland European Acad Neurol, Vienna, Austria

Vidailhet, Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
Sorbonne Univ, Hosp Salpetriere, AP HP,CNRS, INSERM,Paris Brain Inst ICM,Inst Cervea,Dept Neur, Paris, France European Acad Neurol, Vienna, Austria

Trinka, Eugene
论文数: 0 引用数: 0
h-index: 0
机构:
Paracelsus Med Univ, Christian Doppler Univ Hosp, Dept Neurol, Affiliated Partner ERN EpiCARE, Salzburg, Austria
Christian Doppler Univ Hosp, Ctr Cognit Neurosci, Neurosci Inst, Salzburg, Austria
UMIT Univ Hlth Sci Med Informat & Technol, Dept Publ Hlth, Hlth Serv Res & Hlth Technol Assessment, Hall In Tirol, Austria European Acad Neurol, Vienna, Austria

Deuschl, Guenther
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kiel, Dept Neurol, Kiel, Germany European Acad Neurol, Vienna, Austria

Federico, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
Univ Siena, Med Sch, Dept Med Surg & Neurosci, Siena, Italy European Acad Neurol, Vienna, Austria

Leone, Maurizio A.
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Casa Sollievo Sofferenza, Dept Emergency & Crit Care, SC Neurol, San Giovanni Rotondo, Italy European Acad Neurol, Vienna, Austria
[3]
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
[J].
Altassan, Ruqaiah
;
Radenkovic, Silvia
;
Edmondson, Andrew C.
;
Barone, Rita
;
Brasil, Sandra
;
Cechova, Anna
;
Coman, David
;
Donoghue, Sarah
;
Falkenstein, Kristina
;
Ferreira, Vanessa
;
Ferreira, Carlos
;
Fiumara, Agata
;
Francisco, Rita
;
Freeze, Hudson
;
Grunewald, Stephanie
;
Honzik, Tomas
;
Jaeken, Jaak
;
Krasnewich, Donna
;
Lam, Christina
;
Lee, Joy
;
Lefeber, Dirk
;
Marques-da-Silva, Dorinda
;
Pascoal, Carlota
;
Quelhas, Dulce
;
Raymond, Kimiyo M.
;
Rymen, Daisy
;
Seroczynska, Malgorzata
;
Serrano, Mercedes
;
Sykut-Cegielska, Jolanta
;
Thiel, Christian
;
Tort, Frederic
;
Vals, Mari-Anne
;
Videira, Paula
;
Voermans, Nicol
;
Witters, Peter
;
Morava, Eva
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2021, 44 (01)
:148-163

Altassan, Ruqaiah
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia
Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Radenkovic, Silvia
论文数: 0 引用数: 0
h-index: 0
机构:
VIB, Ctr Canc Biol, Metabol Expertise Ctr, Leuven, Belgium
Katholieke Univ Leuven, Dept Oncol, Metabol Expertise Ctr, Leuven, Belgium
Katholieke Univ Leuven, Dept CHROMETA, Lab Hepatol, Leuven, Belgium
Mayo Clin, Dept Clin Genom, Rochester, MN USA
Mayo Clin, Lab Med Pathol, Rochester, MN USA King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Edmondson, Andrew C.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

论文数: 引用数:
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机构:

Brasil, Sandra
论文数: 0 引用数: 0
h-index: 0
机构:
Portuguese Assoc Congenital Disorders Glycosylat, Lisbon, Portugal
Univ NOVA Lisboa, Fac Ciencias & Tecnol, Dept Ciencias Vida, UCIBIO, Lisbon, Portugal
Profess & Patient Assoc Int Network CDG & Allies, Lisbon, Portugal King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Cechova, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Coman, David
论文数: 0 引用数: 0
h-index: 0
机构:
Queensland Childrens Hosp, Metabol Med, Brisbane, Qld, Australia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Donoghue, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Dept Metabol Med, Melbourne, Vic, Australia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Falkenstein, Kristina
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Ctr Child & Adolescent Med, Heidelberg, Germany King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Ferreira, Vanessa
论文数: 0 引用数: 0
h-index: 0
机构:
Portuguese Assoc Congenital Disorders Glycosylat, Lisbon, Portugal King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Ferreira, Carlos
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Fiumara, Agata
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Catania, Dept Clin & Expt Med, Child Neurol & Psychiat Unit, Catania, Italy King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Francisco, Rita
论文数: 0 引用数: 0
h-index: 0
机构:
Portuguese Assoc Congenital Disorders Glycosylat, Lisbon, Portugal
Univ NOVA Lisboa, Fac Ciencias & Tecnol, Dept Ciencias Vida, UCIBIO, Lisbon, Portugal
Profess & Patient Assoc Int Network CDG & Allies, Lisbon, Portugal King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Freeze, Hudson
论文数: 0 引用数: 0
h-index: 0
机构:
Sanford Burnham Prebys Med Discovery Inst, Sanford Childrens Hlth Res Ctr, La Jolla, CA USA King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Grunewald, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Great Ormond St Hosp NHS Fdn Trust, Metabol Dept, London, England
UCL, NIHR Biomed Res Ctr BRC, Inst Child Hlth, London, England King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Honzik, Tomas
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Jaeken, Jaak
论文数: 0 引用数: 0
h-index: 0
机构:
Katholieke Univ Leuven, Ctr Metab Dis, Leuven, Belgium King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Krasnewich, Donna
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Lam, Christina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA
Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Lee, Joy
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Dept Metabol Med, Melbourne, Vic, Australia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Lefeber, Dirk
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Marques-da-Silva, Dorinda
论文数: 0 引用数: 0
h-index: 0
机构:
Portuguese Assoc Congenital Disorders Glycosylat, Lisbon, Portugal
Univ NOVA Lisboa, Fac Ciencias & Tecnol, Dept Ciencias Vida, UCIBIO, Lisbon, Portugal
Profess & Patient Assoc Int Network CDG & Allies, Lisbon, Portugal King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Pascoal, Carlota
论文数: 0 引用数: 0
h-index: 0
机构:
Portuguese Assoc Congenital Disorders Glycosylat, Lisbon, Portugal
Univ NOVA Lisboa, Fac Ciencias & Tecnol, Dept Ciencias Vida, UCIBIO, Lisbon, Portugal
Profess & Patient Assoc Int Network CDG & Allies, Lisbon, Portugal King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Quelhas, Dulce
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Genet Med Doutor Jacinto Magalhaes, Unidade Bioquim Genet, Porto, Portugal King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Raymond, Kimiyo M.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Lab Med & Pathol, Coll Med, Biochem Genet Lab, Rochester, MN USA King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Rymen, Daisy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Leuven, Dept Paediat, Leuven, Belgium
Univ Hosp Leuven, Metab Ctr, Leuven, Belgium King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Seroczynska, Malgorzata
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Mother & Child Hlth, Dept Inborn Errors Metab & Paediat, Warsaw, Poland King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Serrano, Mercedes
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Salud Carlos III, Hosp St Joan de Deu, Ctr Biomed Res Rare Dis CIBER ER U 703, Dept Neurol, Barcelona, Spain King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Sykut-Cegielska, Jolanta
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Mother & Child Hlth, Dept Inborn Errors Metab & Paediat, Warsaw, Poland King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Thiel, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Ctr Child & Adolescent Med, Heidelberg, Germany King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Tort, Frederic
论文数: 0 引用数: 0
h-index: 0
机构:
CIBERER, Hosp Clin, Dept Biochem & Mol Genet, Sect Inborn Errors Metab,IDIBAPS, Barcelona, Spain King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Vals, Mari-Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tartu, Inst Clin Med, Dept Clin Genet, Tartu, Estonia King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Videira, Paula
论文数: 0 引用数: 0
h-index: 0
机构:
Univ NOVA Lisboa, Fac Ciencias & Tecnol, Dept Ciencias Vida, UCIBIO, Lisbon, Portugal
Profess & Patient Assoc Int Network CDG & Allies, Lisbon, Portugal King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Voermans, Nicol
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Neurol, Nijmegen, Netherlands King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Witters, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Leuven, Dept Paediat, Leuven, Belgium
Univ Hosp Leuven, Metab Ctr, Leuven, Belgium
Katholieke Univ Leuven, Dept Dev & Regenerat, Leuven, Belgium King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

Morava, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Clin Genom, Rochester, MN USA
Mayo Clin, Lab Med Pathol, Rochester, MN USA King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia
[4]
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
[J].
Altassan, Ruqaiah
;
Peanne, Romain
;
Jaeken, Jaak
;
Barone, Rita
;
Bidet, Muad
;
Borgel, Delphine
;
Brasil, Sandra
;
Cassiman, David
;
Cechova, Anna
;
Coman, David
;
Corral, Javier
;
Correia, Joana
;
de la Morena-Barrio, Maria Eugenia
;
de Lonlay, Pascale
;
Dos Reis, Vanessa
;
Ferreira, Carlos R.
;
Fiumara, Agata
;
Francisco, Rita
;
Freeze, Hudson
;
Funke, Simone
;
Gardeitchik, Thatjana
;
Gert, Matthijs
;
Girad, Muriel
;
Giros, Marisa
;
Gruenewald, Stephanie
;
Hernandez-Caselles, Trinidad
;
Honzik, Tomas
;
Hutter, Marlen
;
Krasnewich, Donna
;
Lam, Christina
;
Lee, Joy
;
Lefeber, Dirk
;
Marques-de-Silva, Dorinda
;
Martinez, Antonio F.
;
Moravej, Hossein
;
Ounap, Katrin
;
Pascoal, Carlota
;
Pascreau, Tiffany
;
Patterson, Marc
;
Quelhas, Dulce
;
Raymond, Kimiyo
;
Sarkhail, Peymaneh
;
Schiff, Manuel
;
Seroczynska, Malgorzata
;
Serrano, Mercedes
;
Seta, Nathalie
;
Sykut-Cegielska, Jolanta
;
Thiel, Christian
;
Tort, Federic
;
Vals, Mari-Anne
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2019, 42 (01)
:5-28

Altassan, Ruqaiah
论文数: 0 引用数: 0
h-index: 0
机构:
Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Peanne, Romain
论文数: 0 引用数: 0
h-index: 0
机构:
Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium
LIA GLYCOLAB4CDG Int Associated Lab, Lab Res Congenital Disorders Glycosylat Cellular, Paris, France
LIA GLYCOLAB4CDG Int Associated Lab, Lab Res Congenital Disorders Glycosylat Cellular, Leuven, Belgium Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Jaeken, Jaak
论文数: 0 引用数: 0
h-index: 0
机构:
Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

论文数: 引用数:
h-index:
机构:

Bidet, Muad
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Enfants Malades Hosp, AP HP, IMAGINE Inst Affiliate, Dept Paediat Endocrinol Gynaecol & Diabetol, Paris, France Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

论文数: 引用数:
h-index:
机构:

Brasil, Sandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ NOVA Lisboa, Dept Ciencias Vida, Portuguese Assoc Congenital Disorders Glycosylat, Fac Ciencias & Tecnol, Caparica, Portugal
Univ NOVA Lisboa, Dept Ciencias Vida, Profess & Patient Assoc Int Network CDG & Allies, Fac Ciencias & Tecnol, Caparica, Portugal Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Cassiman, David
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Leuven, Dept Gastroenterol, Hepatol & Metab Ctr, Leuven, Belgium Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Cechova, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Coman, David
论文数: 0 引用数: 0
h-index: 0
机构:
Lady Cilento Childrens Hosp, Dept Metab Med, Brisbane, Qld, Australia
Griffith Univ Gold Coast, Univ Queensland Brisbane, Sch Med, Southport, Qld, Australia Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Corral, Javier
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Murcia, Hosp Univ Morales Meseguer, Serv Hematol & Oncol Med, Ctr Reg Hemodonac,IMIB Arrixaca,CIBERER, Murcia, Spain Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Correia, Joana
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Porto, Ctr Referencia Doencas Hereditarias Metab, Porto, Portugal Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

de la Morena-Barrio, Maria Eugenia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Murcia, Hosp Univ Morales Meseguer, Serv Hematol & Oncol Med, Ctr Reg Hemodonac,IMIB Arrixaca,CIBERER, Murcia, Spain Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

de Lonlay, Pascale
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Hosp Necker Enfants Malades, Reference Ctr Inherited Metab Dis, Paris, France Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Dos Reis, Vanessa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ NOVA Lisboa, Dept Ciencias Vida, Portuguese Assoc Congenital Disorders Glycosylat, Fac Ciencias & Tecnol, Caparica, Portugal Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Ferreira, Carlos R.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA
Childrens Natl Hlth Syst, Div Genet & Metab, Washington, DC USA Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Fiumara, Agata
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Catania, Dept Clin & Expt Med, Child Neurol & Psychiat Unit, Catania, Italy Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Francisco, Rita
论文数: 0 引用数: 0
h-index: 0
机构:
Univ NOVA Lisboa, Dept Ciencias Vida, Portuguese Assoc Congenital Disorders Glycosylat, Fac Ciencias & Tecnol, Caparica, Portugal
Univ NOVA Lisboa, Dept Ciencias Vida, Profess & Patient Assoc Int Network CDG & Allies, Fac Ciencias & Tecnol, Caparica, Portugal
Univ NOVA Lisboa Caparica, Dept Ciencias Vida, Fac Ciencias & Tecnol, UCIBIO, Caparica, Portugal Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Freeze, Hudson
论文数: 0 引用数: 0
h-index: 0
机构:
Sanford Childrens Hlth Res Ctr, Sanford Burnham Prebys Med Discovery Inst, La Jolla, CA USA Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Funke, Simone
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pecs, Div Neonatol, Dept Obstet & Gynecol, Pecs, Hungary Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Gardeitchik, Thatjana
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Gert, Matthijs
论文数: 0 引用数: 0
h-index: 0
机构:
LIA GLYCOLAB4CDG Int Associated Lab, Lab Res Congenital Disorders Glycosylat Cellular, Paris, France
LIA GLYCOLAB4CDG Int Associated Lab, Lab Res Congenital Disorders Glycosylat Cellular, Leuven, Belgium
Katholieke Univ Leuven, Ctr Human Genet, Leuven, Belgium Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Girad, Muriel
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Univ Hosp, AP HP, Hepatol & Gastroenterol Unit, French Natl Reference Ctr Biliary Atresia & Genet, Paris, France
Paris Descartes Univ, Hepatol Prdiatr Dept, Paris, France Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Giros, Marisa
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Clin Barcelona, Seccio Errors Congenits Metab IBC, Serv Bioquim & Genet Mol, IDIBAPS,CIBERER, Barcelona, Spain Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Gruenewald, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Metab Unit, London, England
UCL, NHS Trust, Inst Child Hlth, London, England Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Hernandez-Caselles, Trinidad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Murcia, IMIB, Fac Med, Dept Bioquim Biol Mol & Inmunol B, Murcia, Spain Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Honzik, Tomas
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Hutter, Marlen
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Ctr Child & Adolescent Med, Heidelberg, Germany Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Krasnewich, Donna
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Lam, Christina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA
Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Lee, Joy
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp Melbourne, Dept Metab Med, Melbourne, Vic, Australia Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Lefeber, Dirk
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Marques-de-Silva, Dorinda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ NOVA Lisboa, Dept Ciencias Vida, Profess & Patient Assoc Int Network CDG & Allies, Fac Ciencias & Tecnol, Caparica, Portugal
Univ NOVA Lisboa Caparica, Dept Ciencias Vida, Fac Ciencias & Tecnol, UCIBIO, Caparica, Portugal Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Martinez, Antonio F.
论文数: 0 引用数: 0
h-index: 0
机构:
St Joan de Deu Hosp, Genet & Mol Med & Rare Dis Paediat Unit, Barcelona, Spain Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

论文数: 引用数:
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论文数: 引用数:
h-index:
机构:

Pascoal, Carlota
论文数: 0 引用数: 0
h-index: 0
机构:
Univ NOVA Lisboa, Dept Ciencias Vida, Portuguese Assoc Congenital Disorders Glycosylat, Fac Ciencias & Tecnol, Caparica, Portugal
Univ NOVA Lisboa, Dept Ciencias Vida, Profess & Patient Assoc Int Network CDG & Allies, Fac Ciencias & Tecnol, Caparica, Portugal Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Pascreau, Tiffany
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, AP HP, Serv Hematol Biol, Paris, France Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Patterson, Marc
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Childrens Ctr, Dept Neurol, Div Child & Adolescent Neurol, Rochester, NY USA
Mayo Clin, Childrens Ctr, Dept Pediat, Div Child & Adolescent Neurol, Rochester, NY USA
Mayo Clin, Childrens Ctr, Dept Med Genet, Div Child & Adolescent Neurol, Rochester, NY USA Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Quelhas, Dulce
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Murcia, Hosp Univ Morales Meseguer, Serv Hematol & Oncol Med, Ctr Reg Hemodonac,IMIB Arrixaca,CIBERER, Murcia, Spain
Ctr Genet Med Doutor Jacinto Magalhaes, Unidade Bioquim Genet, Porto, Portugal Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Raymond, Kimiyo
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Coll Med, Dept Lab Med & Pathol, Biochem Genet Lab, Rochester, MN USA Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Sarkhail, Peymaneh
论文数: 0 引用数: 0
h-index: 0
机构:
Sarem Womans Hosp, Metab & Genet Dept, Tehran, Iran Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Schiff, Manuel
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, Farnoux Pole Pediat Med CHU C, Neurol Pediat & Malad Metabol, Paris, France Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Seroczynska, Malgorzata
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Murcia, IMIB, Fac Med, Dept Bioquim Biol Mol & Inmunol B, Murcia, Spain Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Serrano, Mercedes
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBER ER U 703, Hosp St Joan de Deu, Neurol Dept, Barcelona, Spain Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Seta, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Bichat Hosp, AP HP, Paris, France Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Sykut-Cegielska, Jolanta
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Mother & Child Hlth, Dept Inborn Errors Metab & Paediat, Warsaw, Poland Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Thiel, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Ctr Child & Adolescent Med, Heidelberg, Germany Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Tort, Federic
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Clin Barcelona, Seccio Errors Congenits Metab IBC, Serv Bioquim & Genet Mol, IDIBAPS,CIBERER, Barcelona, Spain Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

Vals, Mari-Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada
[5]
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
[J].
Boy, Nikolas
;
Muehlhausen, Chris
;
Maier, Esther M.
;
Ballhausen, Diana
;
Baumgartner, Matthias R.
;
Beblo, Skadi
;
Burgard, Peter
;
Chapman, Kimberly A.
;
Dobbelaere, Dries
;
Heringer-Seifert, Jana
;
Fleissner, Sandra
;
Grohmann-Held, Karina
;
Hahn, Gabriele
;
Harting, Inga
;
Hoffmann, Georg F.
;
Jochum, Frank
;
Karall, Daniela
;
Konstantopoulous, Vassiliki
;
Krawinkel, Michael B.
;
Lindner, Martin
;
Maertner, E. M. Charlotte
;
Nuoffer, Jean-Marc
;
Okun, Jurgen G.
;
Plecko, Barbara
;
Posset, Roland
;
Sahm, Katja
;
Scholl-Buergi, Sabine
;
Thimm, Eva
;
Walter, Magdalena
;
Williams, Monique
;
Vom Dahl, Stephan
;
Ziagaki, Athanasia
;
Zschocke, Johannes
;
Koelker, Stefan
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2023, 46 (03)
:482-519

Boy, Nikolas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Muehlhausen, Chris
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr, Dept Paediat & Adolescent Med, Gottingen, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Maier, Esther M.
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ Munchen, Univ Munich Med Ctr, Dr von Hauner Childrens Hosp, Munich, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Ballhausen, Diana
论文数: 0 引用数: 0
h-index: 0
机构:
Lausanne Univ Hosp, Paediat, Paediat Metab Unit, Woman Mother Child Dept, Lausanne, Switzerland
Univ Lausanne, Lausanne, Switzerland Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Baumgartner, Matthias R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Univ Childrens Hosp Zurich, Div Metab, Zurich, Switzerland
Univ Zurich, Univ Childrens Hosp Zurich, Childrens Res Ctr, Zurich, Switzerland Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Beblo, Skadi
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leipzig, Univ Hosp, Hosp Children & Adolescents, Ctr Paediat Res Leipzig CPL,Dept Women & Child Hl, Leipzig, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Burgard, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Chapman, Kimberly A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Hlth Syst, Rare Dis Inst, Washington, DC USA Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Dobbelaere, Dries
论文数: 0 引用数: 0
h-index: 0
机构:
Jeanne de Flandre Hosp, Reference Ctr Inherited Metab Disorders, Dept Paediat Metab, Lille, France Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Heringer-Seifert, Jana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Fleissner, Sandra
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ Munchen, Univ Munich Med Ctr, Dr von Hauner Childrens Hosp, Munich, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Grohmann-Held, Karina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Greifswald, Ctr Child & Adolescent Med, Greifswald, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Hahn, Gabriele
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dresden, UMC, Dept Radiol Diagnost, Dresden, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Harting, Inga
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Dept Neuroradiol, Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Hoffmann, Georg F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Jochum, Frank
论文数: 0 引用数: 0
h-index: 0
机构:
Evangel Waldkrankenhaus Spandau, Berlin, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

论文数: 引用数:
h-index:
机构:

Konstantopoulous, Vassiliki
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Paediat & Adolescent Med, Vienna, Austria Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Krawinkel, Michael B.
论文数: 0 引用数: 0
h-index: 0
机构:
Justus Liebig Univ Giessen, Inst Nutr Sci, Giessen, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Lindner, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp Frankfurt, Div Metab Dis, Frankfurt, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Maertner, E. M. Charlotte
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Nuoffer, Jean-Marc
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h-index: 0
机构:
Univ Bern, Univ Inst Clin Chem, Bern, Switzerland Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Okun, Jurgen G.
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h-index: 0
机构:
Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

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Posset, Roland
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Sahm, Katja
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Scholl-Buergi, Sabine
论文数: 0 引用数: 0
h-index: 0
机构:
Evangel Waldkrankenhaus Spandau, Berlin, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Thimm, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Heinrich Heine Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Paediat Neonatol & Paediat Cardiol, Div Expt Paediat & Metab, Dusseldorf, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Walter, Magdalena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Williams, Monique
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC Univ Med Ctr, Ctr Lysosomal & Metab Dis, Dept Paediat, Rotterdam, Netherlands Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Vom Dahl, Stephan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dusseldorf, Univ Hosp, Dept Gastroenterol Hepatol & Infect Dis, Dusseldorf, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Ziagaki, Athanasia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Berlin, Ctr Excellence Rare Metab Dis, Interdisciplinary Ctr Metab Endocrinol Diabet & M, Berlin, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Zschocke, Johannes
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Div Human Genet, Innsbruck, Austria Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany

Koelker, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Child & Adolescent Med, Dept Gen Paediat, Div Neuropaediat & Metab Med, Neuenheimer Feld 430, D-69120 Heidelberg, Germany
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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
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Cechova, Anna
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Bruneel, Arnaud
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Harroche, Annie
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Kiec-Wilk, Beata
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Mohnike, Klaus
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Pascreau, Tiffany
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Pawlinski, Lukasz
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Radenkovic, Silvia
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Vuillaumier-Barrot, Sandrine
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Aldamiz-Echevarria, Luis
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Couce, Maria Luz
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JOURNAL OF INHERITED METABOLIC DISEASE,
2020, 43 (04)
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Cechova, Anna
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h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic
Gen Univ Hosp Prague, Ke Karlovu 2, Prague 12808 2, Czech Republic Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Altassan, Ruqaiah
论文数: 0 引用数: 0
h-index: 0
机构:
Alfaisal Univ, King Faisal Specialist Hosp & Res Ctr, Med Genet Dept, Riyadh, Saudi Arabia Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

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Bruneel, Arnaud
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Xavier Bichat, AP HP, Dept Biochem, Paris, France
Univ Paris Saclay, INSERM, Mecanismes Cellulaires & Mol Adaptat Stress & Can, UMR1193, Chatenay Malabry, France Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Correia, Joana
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h-index: 0
机构:
Ctr Hosp Univ Porto CHUP, Ctr Referencia Doencas Hereditarias Metab, Porto, Portugal Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Girard, Muriel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Necker Hosp, AP HP, Reference Ctr Liver Dis, Paris, France Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Harroche, Annie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Hemophilia Care Ctr, Hematol Unit, Paris, France Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Kiec-Wilk, Beata
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Metab Dis JUMC, Krakow, Poland
NSSU Univ Hosp, Krakow, Poland Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Mohnike, Klaus
论文数: 0 引用数: 0
h-index: 0
机构:
Otto Von Guericke Univ, Dept Paediat, Magdeburg, Germany Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Pascreau, Tiffany
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris Saclay, Hop Necker, AP HP, Serv Hematol Biol, Paris, France Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Pawlinski, Lukasz
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Metab Dis JUMC, Krakow, Poland
NSSU Univ Hosp, Krakow, Poland Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Radenkovic, Silvia
论文数: 0 引用数: 0
h-index: 0
机构:
CCB VIB, Metabol Expertise Ctr, Leuven, Belgium
Mayo Clin, Dept Clin Genom, Rochester, MN USA
Mayo Clin, Lab Med Pathol, Rochester, MN USA Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Vuillaumier-Barrot, Sandrine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Xavier Bichat, AP HP, Dept Biochem, Paris, France
Ctr Rech Inflammat CRI, INSERM, U1149, Paris, France
Univ Paris 07, Paris, France Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Aldamiz-Echevarria, Luis
论文数: 0 引用数: 0
h-index: 0
机构:
Linked Clin Grp Rare Dis CIBER CIBERER, Biocruces Bizkaia Hlth Res Inst, Grp Metab, Baracaldo, Spain Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

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Martins, Esmeralda G.
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Porto CHUP, Ctr Referencia Doencas Hereditarias Metab, Porto, Portugal Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Quelhas, Dulce
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Porto CHUP, Ctr Genet Med Jacinto Magalhaes, Ctr Referencia Doencas Hereditarias Metab, Unit Multidisciplinary Res Biomed,ICBAS,UP, Porto, Portugal Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Morava, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Clin Genom, Rochester, MN USA Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

de Lonlay, Pascale
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Necker Hosp, Reference Ctr Inherited Metab Dis, APHP,Filiere G2M,MetabERN, 149 Rue Sevres, F-75743 Paris, France Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Witters, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Leuven, Dept Pediat, B-3000 Leuven, Belgium
Univ Hosp Leuven, Metab Ctr, Leuven, Belgium Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic

Honzik, Tomas
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic
Gen Univ Hosp Prague, Ke Karlovu 2, Prague 12808 2, Czech Republic
Katholieke Univ Leuven, Dept Dev & Regenerat, Leuven, Belgium Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Ke Karlovu 2, Prague 12808 2, Czech Republic
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Coughlin, Curtis R., II
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Tseng, Laura A.
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Ashmore, Catherine
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Boemer, Francois
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Bok, Levinus A.
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Boyer, Monica
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Buhas, Daniela
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Clayton, Peter T.
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Das, Anibh
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Dekker, Hanka
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Evangeliou, Athanasios
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Feillet, Francois
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Footitt, Emma J.
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Gospe, Sidney M., Jr.
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Hartmann, Hans
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Kara, Majdi
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Kristensen, Erle
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Lee, Joy
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Lilje, Rina
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Longo, Nicola
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Lunsing, Roelineke J.
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Mills, Philippa
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Papadopoulou, Maria T.
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Pearl, Phillip L.
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Piazzon, Flavia
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Plecko, Barbara
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Saini, Arushi G.
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Santra, Saikat
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Sjarif, Damayanti R.
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Stockler-Ipsiroglu, Sylvia
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Striano, Pasquale
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Van Hove, Johan L. K.
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Verhoeven-Duif, Nanda M.
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Wijburg, Frits A.
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Zuberi, Sameer M.
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van Karnebeek, Clara D. M.
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JOURNAL OF INHERITED METABOLIC DISEASE,
2021, 44 (01)
:178-192

Coughlin, Curtis R., II
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Tseng, Laura A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Dept Pediat, Med Ctr, Emma Childrens Hosp, Amsterdam, Netherlands Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Abdenur, Jose E.
论文数: 0 引用数: 0
h-index: 0
机构:
CHOC Childrens Hosp, Div Metab Disorders, Orange, CA USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Ashmore, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Womens & Childrens NHS Fdn Trust, Birmingham, W Midlands, England Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Boemer, Francois
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Sart Tilman, Dept Human Genet, Liege, Belgium Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Bok, Levinus A.
论文数: 0 引用数: 0
h-index: 0
机构:
Maxima Med Ctr, Dept Pediat & Neonatol, Veldhoven, Netherlands Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Boyer, Monica
论文数: 0 引用数: 0
h-index: 0
机构:
CHOC Childrens Hosp, Div Metab Disorders, Orange, CA USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

论文数: 引用数:
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Clayton, Peter T.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Great Ormond St Inst Child Hlth, Genet & Genom Med, London, England Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Das, Anibh
论文数: 0 引用数: 0
h-index: 0
机构:
Hannover Med Sch, Clin Paediat Kidney Liver & Metab Dis, Hannover, Germany Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Dekker, Hanka
论文数: 0 引用数: 0
h-index: 0
机构:
VKS Dutch Patient Org Metab Dis, Zwolle, Netherlands Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Evangeliou, Athanasios
论文数: 0 引用数: 0
h-index: 0
机构:
Aristotle Univ Thessaloniki, Gen Hosp Papageorgiou, Dept Pediat 4, Div Child Neurol & Inherited Metab Disorders, Thessaloniki, Greece Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Feillet, Francois
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Nancy, Pediat Unit, Reference Ctr Inborn Errors Metab, Nancy, France
Univ Lorraine, Fac Med Nancy, Nutr Genet & Environm Risk Exposure NGERE, INSERM UMR S 1256, Nancy, France Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Footitt, Emma J.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Dept Metab Paediat, London, England Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Gospe, Sidney M., Jr.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98195 USA
Univ Washington, Dept Pediat, Div Pediat Neurol, Seattle, WA 98195 USA
Duke Univ, Dept Pediat, Durham, NC 27706 USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Hartmann, Hans
论文数: 0 引用数: 0
h-index: 0
机构:
Hannover Med Sch, Clin Paediat Kidney Liver & Metab Dis, Hannover, Germany Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Kara, Majdi
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tripoli, Dept Pediat, Tripoli, Libya Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

论文数: 引用数:
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Lee, Joy
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Dept Metab Med, Melbourne, Vic, Australia Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Lilje, Rina
论文数: 0 引用数: 0
h-index: 0
机构:
Oslo Univ Hosp, Dept Children & Adolescent Med, Oslo, Norway Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Longo, Nicola
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Lunsing, Roelineke J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, Groningen, Netherlands Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Mills, Philippa
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Great Ormond St Inst Child Hlth, Genet & Genom Med, London, England Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Papadopoulou, Maria T.
论文数: 0 引用数: 0
h-index: 0
机构:
Aristotle Univ Thessaloniki, Gen Hosp Papageorgiou, Dept Pediat 4, Div Child Neurol & Inherited Metab Disorders, Thessaloniki, Greece Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Pearl, Phillip L.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Dept Neurol, Boston Childrens Hosp, Div Epilepsy & Clin Neurophysiol, Boston, MA 02115 USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Piazzon, Flavia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Childrens Inst, Neurometab Clin, Sao Paulo, Brazil Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

论文数: 引用数:
h-index:
机构:

Saini, Arushi G.
论文数: 0 引用数: 0
h-index: 0
机构:
Postgrad Inst Med Educ & Res, Dept Pediat, Pediat Neurol Unit, Chandigarh, India Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Santra, Saikat
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Womens & Childrens NHS Fdn Trust, Birmingham, W Midlands, England Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Sjarif, Damayanti R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Indonesia, Dept Child Hlth, Fac Med, Jakarta, Indonesia Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Stockler-Ipsiroglu, Sylvia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, BC Childrens Hosp, Div Biochem Genet, Vancouver, BC, Canada Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Striano, Pasquale
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Genoa, Italy
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Van Hove, Johan L. K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Verhoeven-Duif, Nanda M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Wijburg, Frits A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Dept Pediat, Med Ctr, Emma Childrens Hosp, Amsterdam, Netherlands Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

Zuberi, Sameer M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Glasgow, Royal Hosp Children, Paediat Neurosci Res Grp, Glasgow, Lanark, Scotland
Univ Glasgow, Sch Med, Glasgow, Lanark, Scotland Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

van Karnebeek, Clara D. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Dept Pediat, Med Ctr, Emma Childrens Hosp, Amsterdam, Netherlands
Radboud Univ Nijmegen, Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Dept Pediat,Med Ctr, Nijmegen, Netherlands Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA
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De Vries, Maaike C.
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Lamperti, Costanza
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2020, 43 (04)
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De Vries, Maaike C.
论文数: 0 引用数: 0
h-index: 0
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Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Brown, David A.
论文数: 0 引用数: 0
h-index: 0
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Virginia Tech, Dept Human Nutr Foods & Exercise, Blacksburg, VA USA
Virginia Tech, Ctr Drug Discovery, Blacksburg, VA USA Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Allen, Mitchell E.
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h-index: 0
机构:
Virginia Tech, Dept Human Nutr Foods & Exercise, Blacksburg, VA USA
Virginia Tech, Ctr Drug Discovery, Blacksburg, VA USA Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Bindoff, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bergen, Dept Clin Med, Bergen, Norway
Haukeland Hosp, Dept Neurol, Bergen, Norway Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Gorman, Grainne S.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Wellcome Ctr Mitochondrial Res, Inst Neurosci, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Tyne Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Karaa, Amel
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h-index: 0
机构:
Harvard Med Sch, Massachusetts Gen Hosp, Genet Unit, Boston, MA 02115 USA Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Keshavan, Nandaki
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Great Ormond St Inst Child Hlth, Mitochondrial Res Grp, London, England
Great Ormond St Hosp NHS Fdn Trust, Metab Unit, London, England Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Lamperti, Costanza
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

McFarland, Robert
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Wellcome Ctr Mitochondrial Res, Inst Neurosci, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Tyne Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Ng, Yi Shiau
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h-index: 0
机构:
Newcastle Univ, Wellcome Ctr Mitochondrial Res, Inst Neurosci, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Tyne Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

O'Callaghan, Mar
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Dept Neurol, Metab Unit, Barcelona, Spain
Inst Salud Carlos III, CIBERER, Barcelona, Spain Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Pitceathly, Robert D. S.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London, England Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Rahman, Shamima
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Great Ormond St Inst Child Hlth, Mitochondrial Res Grp, London, England
Great Ormond St Hosp NHS Fdn Trust, Metab Unit, London, England Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Russel, Frans G. M.
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h-index: 0
机构:
Radboudumc, Radboud Inst Mol Life Sci, Dept Pharmacol & Toxicol, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Varhaug, Kristin N.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bergen, Dept Clin Med, Bergen, Norway
Haukeland Hosp, Dept Neurol, Bergen, Norway Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Schirris, Tom J. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboudumc, Radboud Inst Mol Life Sci, Dept Pharmacol & Toxicol, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands

Mancuso, Michelangelo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pisa, Neurol Inst, Dept Clin & Expt Med, Pisa, Italy Radboudumc Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands
[9]
The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testing
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Evers, Roeland A. F.
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van Wegberg, Annemiek M. J.
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Anjema, Karen
;
Lubout, Charlotte M. A.
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van Dam, Esther
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van Vliet, Danique
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Blau, Nenad
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van Spronsen, Francjan J.
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JOURNAL OF INHERITED METABOLIC DISEASE,
2020, 43 (02)
:244-250

Evers, Roeland A. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

van Wegberg, Annemiek M. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Anjema, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Lubout, Charlotte M. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

van Dam, Esther
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

van Vliet, Danique
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

Blau, Nenad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp Zurich, Zurich, Switzerland Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands

van Spronsen, Francjan J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis, Groningen, Netherlands
[10]
An international classification of inherited metabolic disorders (ICIMD)
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Ferreira, Carlos R.
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Rahman, Shamima
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Keller, Markus
;
Zschocke, Johannes
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JOURNAL OF INHERITED METABOLIC DISEASE,
2021, 44 (01)
:164-177

Ferreira, Carlos R.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20814 USA NHGRI, NIH, Bethesda, MD 20814 USA

Rahman, Shamima
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Great Ormond St Inst Child Hlth, Mitochondrial Res Grp, London, England
Great Ormond St Hosp Children NHS Fdn Trust, Metab Unit, London, England NHGRI, NIH, Bethesda, MD 20814 USA

Keller, Markus
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Inst Human Genet, Peter Mayr Str 1, A-6020 Innsbruck, Austria NHGRI, NIH, Bethesda, MD 20814 USA

Zschocke, Johannes
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Inst Human Genet, Peter Mayr Str 1, A-6020 Innsbruck, Austria NHGRI, NIH, Bethesda, MD 20814 USA