共 20 条
[1]
Pediatric hemophagocytic lymphohistiocytosis
[J].
Canna, Scott W.
;
Marsh, Rebecca A.
.
BLOOD,
2020, 135 (16)
:1332-1343

Canna, Scott W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, Div Rheumatol, UPMC Childrens Hosp Pittsburgh, Pittsburgh, PA 15260 USA Univ Pittsburgh, Div Rheumatol, UPMC Childrens Hosp Pittsburgh, Pittsburgh, PA 15260 USA

Marsh, Rebecca A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cincinnati, Div Bone Marrow Transplantat & Immune Deficiency, Cincinnati Childrens Hosp Med Ctr, 3333 Burnet Ave, Cincinnati, OH 45229 USA Univ Pittsburgh, Div Rheumatol, UPMC Childrens Hosp Pittsburgh, Pittsburgh, PA 15260 USA
[2]
Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family
[J].
Colombo, I.
;
Pagliarani, S.
;
Testolin, S.
;
Salsano, E.
;
Napoli, L. M.
;
Bordoni, A.
;
Salani, S.
;
D'Adda, E.
;
Morandi, L.
;
Farina, L.
;
Magri, F.
;
Riva, M.
;
Prelle, A.
;
Sciacco, M.
;
Comi, G. P.
;
Moggio, M.
.
NEUROMUSCULAR DISORDERS,
2015, 25 (05)
:423-428

Colombo, I.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Pagliarani, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat Neurosci Sect DE, Dino Ferrari Ctr,Neurol Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Testolin, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Salsano, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Neurol Inst C Besta, Dept Clin Neurosci, Clin Cent, Milan, Italy
Fdn IRCCS Neurol Inst C Besta, Dept Clin Neurosci, Peripheral Degenerat Neuropathies Unit, Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Napoli, L. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Bordoni, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat Neurosci Sect DE, Dino Ferrari Ctr,Neurol Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Salani, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat Neurosci Sect DE, Dino Ferrari Ctr,Neurol Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

D'Adda, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Crema, Dept Neurol, Crema, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Morandi, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Neurol Inst C Besta, Dept Clin Neurosci, Neuromuscular Disorders & Neuroimmunol Dept, Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Farina, L.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Magri, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat Neurosci Sect DE, Dino Ferrari Ctr,Neurol Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Riva, M.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Prelle, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Crema, Dept Neurol, Crema, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Sciacco, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Comi, G. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat Neurosci Sect DE, Dino Ferrari Ctr,Neurol Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy

Moggio, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular Unit, I-20122 Milan, Italy
[3]
The potential of dietary treatment in patients with glycogen storage disease type IV
[J].
Derks, Terry G. J.
;
Peeks, Fabian
;
de Boer, Foekje
;
Fokkert-Wilts, Marieke
;
van der Doef, Hubert P. J.
;
van den Heuvel, Marius C.
;
Szymanska, Edyta
;
Rokicki, Dariusz
;
Ryan, Patrick T.
;
Weinstein, David A.
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2021, 44 (03)
:693-704

Derks, Terry G. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands

论文数: 引用数:
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de Boer, Foekje
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands

Fokkert-Wilts, Marieke
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands

van der Doef, Hubert P. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Pediat Gastroenterol Hepatol & Nutr, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands

van den Heuvel, Marius C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Pathol Sect, Dept Pathol & Med Biol, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands

Szymanska, Edyta
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mem Hlth Inst, Dept Gastroenterol Hepatol Feeding Disorders & Pe, Warsaw, Poland Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands

Rokicki, Dariusz
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mem Hlth Inst, Dept Pediat Nutr & Metab Disorders, Warsaw, Poland Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands

Ryan, Patrick T.
论文数: 0 引用数: 0
h-index: 0
机构:
Connecticut Childrens Med Ctr, Glycogen Storage Dis Program, Hartford, CT USA Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands

Weinstein, David A.
论文数: 0 引用数: 0
h-index: 0
机构:
Connecticut Childrens Med Ctr, Glycogen Storage Dis Program, Hartford, CT USA
Univ Connecticut, Hlth Ctr, Dept Pediat, Farmington, CT USA Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Dept Metab Dis, POB 30 001, NL-9700 RB Groningen, Netherlands
[4]
Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population
[J].
Ersoy, Melike
;
Uyanik, Bulent
;
Gedikbasi, Asuman
.
GENES,
2021, 12 (12)

Ersoy, Melike
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hlth Sci, Bakirkoy Dr Sadi Konuk Training & Res Hosp, Div Pediat Metab Dis, Dept Pediat, TR-34093 Istanbul, Turkey Univ Hlth Sci, Bakirkoy Dr Sadi Konuk Training & Res Hosp, Div Pediat Metab Dis, Dept Pediat, TR-34093 Istanbul, Turkey

Uyanik, Bulent
论文数: 0 引用数: 0
h-index: 0
机构:
Bezmialem Fdn Univ, Dept Internal Med, Div Med Genet, Fac Med, TR-34093 Istanbul, Turkey Univ Hlth Sci, Bakirkoy Dr Sadi Konuk Training & Res Hosp, Div Pediat Metab Dis, Dept Pediat, TR-34093 Istanbul, Turkey

Gedikbasi, Asuman
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Inst Child Hlth, Div Med Genet, Dept Pediat Basic Sci, TR-34104 Istanbul, Turkey Univ Hlth Sci, Bakirkoy Dr Sadi Konuk Training & Res Hosp, Div Pediat Metab Dis, Dept Pediat, TR-34093 Istanbul, Turkey
[5]
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
[J].
Farwell, Kelly D.
;
Shahmirzadi, Layla
;
El-Khechen, Dima
;
Powis, Zoee
;
Chao, Elizabeth C.
;
Davis, Brigette Tippin
;
Baxter, Ruth M.
;
Zeng, Wenqi
;
Mroske, Cameron
;
Parra, Melissa C.
;
Gandomi, Stephanie K.
;
Lu, Ira
;
Li, Xiang
;
Lu, Hong
;
Lu, Hsiao-Mei
;
Salvador, David
;
Ruble, David
;
Lao, Monica
;
Fischbach, Soren
;
Wen, Jennifer
;
Lee, Shela
;
Elliott, Aaron
;
Dunlop, Charles L. M.
;
Tang, Sha
.
GENETICS IN MEDICINE,
2015, 17 (07)
:578-586

Farwell, Kelly D.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Shahmirzadi, Layla
论文数: 0 引用数: 0
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机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

El-Khechen, Dima
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Powis, Zoee
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Chao, Elizabeth C.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA
Univ Calif Irvine, Dept Pediat, Div Genet & Metab, Irvine, CA 92717 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Davis, Brigette Tippin
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Baxter, Ruth M.
论文数: 0 引用数: 0
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机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Zeng, Wenqi
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Mroske, Cameron
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Parra, Melissa C.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Gandomi, Stephanie K.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Lu, Ira
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Li, Xiang
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Lu, Hong
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Lu, Hsiao-Mei
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Salvador, David
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Ruble, David
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Lao, Monica
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Fischbach, Soren
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Wen, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Lee, Shela
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Elliott, Aaron
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Dunlop, Charles L. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Tang, Sha
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA
[6]
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
[J].
Froese, D. Sean
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Michaeli, Amit
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McCorvie, Thomas J.
;
Krojer, Tobias
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Sasi, Meitav
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Melaev, Esther
;
Goldblum, Amiram
;
Zatsepin, Maria
;
Lossos, Alexander
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Alvarez, Rafael
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Escriba, Pablo V.
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Minassian, Berge A.
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von Delft, Frank
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Kakhlon, Or
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Yue, Wyatt W.
.
HUMAN MOLECULAR GENETICS,
2015, 24 (20)
:5667-5676

Froese, D. Sean
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Michaeli, Amit
论文数: 0 引用数: 0
h-index: 0
机构:
Pepticom LTD, Jerusalem, Israel Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

McCorvie, Thomas J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Krojer, Tobias
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Sasi, Meitav
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Hebrew Univ, Med Ctr, Dept Neurol, Jerusalem, Israel Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Melaev, Esther
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Hebrew Univ, Med Ctr, Dept Neurol, Jerusalem, Israel Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Goldblum, Amiram
论文数: 0 引用数: 0
h-index: 0
机构:
Pepticom LTD, Jerusalem, Israel
Hebrew Univ Jerusalem, Inst Drug Res, Jerusalem, Israel Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Zatsepin, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Pepticom LTD, Jerusalem, Israel Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Lossos, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Hebrew Univ, Med Ctr, Dept Neurol, Jerusalem, Israel Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Alvarez, Rafael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Balearic Isl, Dept Biol, E-07122 Palma de Mallorca, Spain Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Escriba, Pablo V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Balearic Isl, Dept Biol, E-07122 Palma de Mallorca, Spain Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Minassian, Berge A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Hosp Sick Children, Program Genet & Genom Med, Toronto, ON M5G 1X8, Canada Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

von Delft, Frank
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Kakhlon, Or
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Hebrew Univ, Med Ctr, Dept Neurol, Jerusalem, Israel Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England

Yue, Wyatt W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford OX3 7DQ, England
[7]
Hizarcioglu-Gulsen H, 2014, JIMD REP, V17, P63, DOI 10.1007/8904_2014_335
[8]
Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review
[J].
Iijima, Hiroyuki
;
Iwano, Reiko
;
Tanaka, Yukichi
;
Muroya, Koji
;
Fukuda, Tokiko
;
Sugie, Hideo
;
Kurosawa, Kenji
;
Adachi, Masanori
.
MOLECULAR GENETICS AND METABOLISM REPORTS,
2018, 17
:31-37

Iijima, Hiroyuki
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan

Iwano, Reiko
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan

Tanaka, Yukichi
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Dept Pathol, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan

Muroya, Koji
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan

Fukuda, Tokiko
论文数: 0 引用数: 0
h-index: 0
机构:
Hamamatsu Univ Sch Med, Dept Pediat, Dept Pediat, 1-20-1 Higashi Ku, Hamamatsu, Shizuoka 4313192, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan

Sugie, Hideo
论文数: 0 引用数: 0
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机构:
Tokoha Univ, Fac Hlth & Med Sci, 1-22-1 Aoi Ku, Shizuoka 4200911, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan

Kurosawa, Kenji
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Kanagawa Childrens Med Ctr, Div Med Genet, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan

Adachi, Masanori
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Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Minami Ku, Mutsukawa 2-138-4, Yokohama, Kanagawa 2328555, Japan
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Kim, Sarah
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Kim, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Minnesota, Coll Pharm, Dept Expt & Clin Pharmacol, 7-115 Weaver Densford Hall,308 Harvard St SE, Minneapolis, MN 55455 USA
Univ Minnesota, Dept Pediat, Gene Therapy & Diagnost Lab, 420 Delaware St SE,MMC 391, Minneapolis, MN 55455 USA Univ Minnesota, Coll Pharm, Dept Expt & Clin Pharmacol, 7-115 Weaver Densford Hall,308 Harvard St SE, Minneapolis, MN 55455 USA

Whitley, Chester B.
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h-index: 0
机构:
Univ Minnesota, Coll Pharm, Dept Expt & Clin Pharmacol, 7-115 Weaver Densford Hall,308 Harvard St SE, Minneapolis, MN 55455 USA
Univ Minnesota, Dept Pediat, Gene Therapy & Diagnost Lab, 420 Delaware St SE,MMC 391, Minneapolis, MN 55455 USA
Univ Minnesota Fairview, Adv Therapies Program, 420 Delaware St SE, Minneapolis, MN 55455 USA Univ Minnesota, Coll Pharm, Dept Expt & Clin Pharmacol, 7-115 Weaver Densford Hall,308 Harvard St SE, Minneapolis, MN 55455 USA

Jarnes, Jeanine R.
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h-index: 0
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Univ Minnesota, Coll Pharm, Dept Expt & Clin Pharmacol, 7-115 Weaver Densford Hall,308 Harvard St SE, Minneapolis, MN 55455 USA
Univ Minnesota, Dept Pediat, Gene Therapy & Diagnost Lab, 420 Delaware St SE,MMC 391, Minneapolis, MN 55455 USA Univ Minnesota, Coll Pharm, Dept Expt & Clin Pharmacol, 7-115 Weaver Densford Hall,308 Harvard St SE, Minneapolis, MN 55455 USA
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Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV
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Lee, Yi-Ching
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Chang, Chia-Jung
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Bali, Deeksha
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Chen, Yuan-Tsong
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Yan, Yu-Ting
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HUMAN MOLECULAR GENETICS,
2011, 20 (03)
:455-465

Lee, Yi-Ching
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机构:
Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan
China Med Univ, Grad Inst Integrated Med, Taichung 404, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan

Chang, Chia-Jung
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Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan

Bali, Deeksha
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Duke Univ, Div Med Genet, Dept Pediat, Med Ctr, Durham, NC 27710 USA Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan

Chen, Yuan-Tsong
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Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan

Yan, Yu-Ting
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Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan