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Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant
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Alamoudi, Loujen O.
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Alfaraidi, Albaraa T.
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Althagafi, Samiyah S.
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Al-Thaqafy, Majid S.
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Hasosah, Mohammed
.
CUREUS JOURNAL OF MEDICAL SCIENCE,
2021, 13 (10)

Alamoudi, Loujen O.
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, Minist Natl Guard Hlth Affairs, Coll Med, Sci King Abdullah Int Med Res Ctr,King Abdulaziz, Jeddah, Saudi Arabia King Saud bin Abdulaziz Univ Hlth Sci, Minist Natl Guard Hlth Affairs, Coll Med, Sci King Abdullah Int Med Res Ctr,King Abdulaziz, Jeddah, Saudi Arabia

Alfaraidi, Albaraa T.
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, Minist Natl Guard Hlth Affairs, Coll Med, Sci King Abdullah Int Med Res Ctr,King Abdulaziz, Jeddah, Saudi Arabia King Saud bin Abdulaziz Univ Hlth Sci, Minist Natl Guard Hlth Affairs, Coll Med, Sci King Abdullah Int Med Res Ctr,King Abdulaziz, Jeddah, Saudi Arabia

Althagafi, Samiyah S.
论文数: 0 引用数: 0
h-index: 0
机构:
Al Hada Armed Forces Hosp, Pediat, At Taif, Saudi Arabia King Saud bin Abdulaziz Univ Hlth Sci, Minist Natl Guard Hlth Affairs, Coll Med, Sci King Abdullah Int Med Res Ctr,King Abdulaziz, Jeddah, Saudi Arabia

Al-Thaqafy, Majid S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, Minist Natl Guard Hlth Affairs, Coll Med, Sci King Abdullah Int Med Res Ctr,King Abdulaziz, Jeddah, Saudi Arabia
Minist Natl Guard Hlth Affairs, Infect Prevent & Control, Jeddah, Saudi Arabia King Saud bin Abdulaziz Univ Hlth Sci, Minist Natl Guard Hlth Affairs, Coll Med, Sci King Abdullah Int Med Res Ctr,King Abdulaziz, Jeddah, Saudi Arabia

Hasosah, Mohammed
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, Minist Natl Guard Hlth Affairs, Coll Med, Sci King Abdullah Int Med Res Ctr,King Abdulaziz, Jeddah, Saudi Arabia
Minist Natl Guard Hlth Affairs, Pediat Gastroenterol, Jeddah, Saudi Arabia King Saud bin Abdulaziz Univ Hlth Sci, Minist Natl Guard Hlth Affairs, Coll Med, Sci King Abdullah Int Med Res Ctr,King Abdulaziz, Jeddah, Saudi Arabia
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Auton A., 2015, The 1000 Genomes Project, P71
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[Баранов А.А. Baranov Alexander A.], 2016, [Педиатрическая фармакология, Pediatric pharmacology, Pediatricheskaya farmakologiya], V13, P539, DOI 10.15690/pf.v13i6.1665
[5]
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia
[J].
Barbitoff, Yury A.
;
Skitchenko, Rostislav K.
;
Poleshchuk, Olga, I
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Shikov, Anton E.
;
Serebryakova, Elena A.
;
Nasykhova, Yulia A.
;
Polev, Dmitrii E.
;
Shuvalova, Anna R.
;
Shcherbakova, Irina, V
;
Fedyakov, Mikhail A.
;
Glotov, Oleg S.
;
Glotov, Andrey S.
;
Predeus, Alexander, V
.
MOLECULAR GENETICS & GENOMIC MEDICINE,
2019, 7 (11)

Barbitoff, Yury A.
论文数: 0 引用数: 0
h-index: 0
机构:
Bioinformat Inst, St Petersburg, Russia
St Petersburg State Univ, Dept Genet & Biotechnol, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Skitchenko, Rostislav K.
论文数: 0 引用数: 0
h-index: 0
机构:
Bioinformat Inst, St Petersburg, Russia
ITMO Univ, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Poleshchuk, Olga, I
论文数: 0 引用数: 0
h-index: 0
机构:
Bioinformat Inst, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Shikov, Anton E.
论文数: 0 引用数: 0
h-index: 0
机构:
Bioinformat Inst, St Petersburg, Russia
City Hosp 40, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Serebryakova, Elena A.
论文数: 0 引用数: 0
h-index: 0
机构:
DO Ott Res Inst Obstet Gynaecol & Reprod, Dept Genom Med, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Nasykhova, Yulia A.
论文数: 0 引用数: 0
h-index: 0
机构:
DO Ott Res Inst Obstet Gynaecol & Reprod, Dept Genom Med, St Petersburg, Russia
St Petersburg State Univ, Lab Biobanking & Genom Med, Inst Translat Biomed, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Polev, Dmitrii E.
论文数: 0 引用数: 0
h-index: 0
机构:
Cerbalab LTD, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Shuvalova, Anna R.
论文数: 0 引用数: 0
h-index: 0
机构:
Cerbalab LTD, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Shcherbakova, Irina, V
论文数: 0 引用数: 0
h-index: 0
机构:
St Petersburg State Univ, Lab Biobanking & Genom Med, Inst Translat Biomed, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Fedyakov, Mikhail A.
论文数: 0 引用数: 0
h-index: 0
机构:
City Hosp 40, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Glotov, Oleg S.
论文数: 0 引用数: 0
h-index: 0
机构:
City Hosp 40, St Petersburg, Russia
DO Ott Res Inst Obstet Gynaecol & Reprod, Dept Genom Med, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia

Glotov, Andrey S.
论文数: 0 引用数: 0
h-index: 0
机构:
City Hosp 40, St Petersburg, Russia
DO Ott Res Inst Obstet Gynaecol & Reprod, Dept Genom Med, St Petersburg, Russia
St Petersburg State Univ, Lab Biobanking & Genom Med, Inst Translat Biomed, St Petersburg, Russia
Immanuel Kant Baltic Fed Univ, Inst Living Syst, Kaliningrad, Russia Bioinformat Inst, St Petersburg, Russia

Predeus, Alexander, V
论文数: 0 引用数: 0
h-index: 0
机构:
Bioinformat Inst, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia
[6]
The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion
[J].
Baroncelli, G. I.
;
Carlucci, G.
;
Freri, E.
;
Giuca, M. R.
;
Guarnieri, V.
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Navarra, G.
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Toschi, B.
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Mora, S.
.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION,
2024, 47 (03)
:739-747

Baroncelli, G. I.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Div Pediat, Dept Obstet Gynecol & Pediat, Pediat & Adolescent Endocrinol, Pisa, Italy Univ Hosp, Div Pediat, Dept Obstet Gynecol & Pediat, Pediat & Adolescent Endocrinol, Pisa, Italy

Carlucci, G.
论文数: 0 引用数: 0
h-index: 0
机构:
OPT SPA, Soluz Mondo Healthcare, Milan, Italy Univ Hosp, Div Pediat, Dept Obstet Gynecol & Pediat, Pediat & Adolescent Endocrinol, Pisa, Italy

Freri, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, Milan, Italy Univ Hosp, Div Pediat, Dept Obstet Gynecol & Pediat, Pediat & Adolescent Endocrinol, Pisa, Italy

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Guarnieri, V.
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Foggia, Italy Univ Hosp, Div Pediat, Dept Obstet Gynecol & Pediat, Pediat & Adolescent Endocrinol, Pisa, Italy

Navarra, G.
论文数: 0 引用数: 0
h-index: 0
机构:
OPT SPA, Soluz Mondo Healthcare, Milan, Italy Univ Hosp, Div Pediat, Dept Obstet Gynecol & Pediat, Pediat & Adolescent Endocrinol, Pisa, Italy

Toschi, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Sect Med Genet, Dept Med & Oncol Area, Pisa, Italy Univ Hosp, Div Pediat, Dept Obstet Gynecol & Pediat, Pediat & Adolescent Endocrinol, Pisa, Italy

Mora, S.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS San Raffaele Hosp, Dept Pediat, Lab Pediat Endocrinol, Milan, Italy Univ Hosp, Div Pediat, Dept Obstet Gynecol & Pediat, Pediat & Adolescent Endocrinol, Pisa, Italy
[7]
Hypophosphatasia and cleidocranial dysplasia-a case report and review of the literature: the role of the neurosurgeon
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Blionas, Alexandros
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Friehs, Gerhard M.
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Zerris, Vasileios A.
.
CHILDS NERVOUS SYSTEM,
2022, 38 (02)
:461-464

Blionas, Alexandros
论文数: 0 引用数: 0
h-index: 0
机构:
MITERA Childrens Hosp, Dept Pediat Neurosurg, Maroussi, Attika, Greece MITERA Childrens Hosp, Dept Pediat Neurosurg, Maroussi, Attika, Greece

Friehs, Gerhard M.
论文数: 0 引用数: 0
h-index: 0
机构:
MITERA Childrens Hosp, Dept Pediat Neurosurg, Maroussi, Attika, Greece MITERA Childrens Hosp, Dept Pediat Neurosurg, Maroussi, Attika, Greece

Zerris, Vasileios A.
论文数: 0 引用数: 0
h-index: 0
机构:
MITERA Childrens Hosp, Dept Pediat Neurosurg, Maroussi, Attika, Greece MITERA Childrens Hosp, Dept Pediat Neurosurg, Maroussi, Attika, Greece
[8]
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
[J].
Cinque, Luigia
;
Pugliese, Flavia
;
Salcuni, Antonio Stefano
;
Trombetta, Domenico
;
Battista, Claudia
;
Biagini, Tommaso
;
Augello, Bartolomeo
;
Nardella, Grazia
;
Conti, Francesco
;
Corbetta, Sabrina
;
Fischetto, Rita
;
Foiadelli, Thomas
;
Gaudio, Agostino
;
Giannini, Cosimo
;
Grosso, Enrico
;
Guabello, Gregorio
;
Massuras, Stefania
;
Palermo, Andrea
;
Politano, Luisa
;
Pigliaru, Francesca
;
Ruggeri, Rosaria Maddalena
;
Scarano, Emanuela
;
Vicchio, Piera
;
Cannavo, Salvatore
;
Celli, Mauro
;
Petrizzelli, Francesco
;
Mastroianno, Mario
;
Castori, Marco
;
Scillitani, Alfredo
;
Guarnieri, Vito
.
FRONTIERS IN ENDOCRINOLOGY,
2023, 14

Cinque, Luigia
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Pugliese, Flavia
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Unit Endocrinol, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Salcuni, Antonio Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp S Maria Misericordia, Endocrinol & Metab Unit, Udine, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Trombetta, Domenico
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Lab Oncol, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Battista, Claudia
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Unit Endocrinol, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Biagini, Tommaso
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Lab Bioinformat, San Giovanni Rotondo, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Augello, Bartolomeo
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Nardella, Grazia
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Conti, Francesco
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Dept Clin & Mol Med, Rome, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Corbetta, Sabrina
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ortoped Galeazzi, Ist Ric & Cura Carattere Sci IRCCS, Endocrinol & Diabetol Serv, Milan, Italy
Univ Milan, Dept Biomed Surg & Dent Sci, Milan, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Fischetto, Rita
论文数: 0 引用数: 0
h-index: 0
机构:
Giovanni XXIII Childrens Hosp, Dept Pediat Med, Clin Genet Unit, Bari, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

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Gaudio, Agostino
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Catania, Dept Clin & Expt Med, Catania, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Giannini, Cosimo
论文数: 0 引用数: 0
h-index: 0
机构:
G D Annunzio Univ Chieti Pescara, Dept Pediat, Pescara, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Grosso, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
Citta Salute & Sci Univ Hosp, Med Genet, Turin, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Guabello, Gregorio
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ortoped Galeazzi, Ist Ric & Cura Carattere Sci IRCCS, Reumatol Unit, Milan, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Massuras, Stefania
论文数: 0 引用数: 0
h-index: 0
机构:
Citta Salute & Sci Univ Hosp, Med Genet, Turin, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Palermo, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Campus Biomed Univ Rome, Dept Fac Med & Surg, Unit Endocrinol & Diabet, Rome, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Politano, Luisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Campania Luigi Vanvitelli, Cardiomiol & Med Genet, Naples, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

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Scarano, Emanuela
论文数: 0 引用数: 0
h-index: 0
机构:
Azienda Ospedaliero Universitaria S Orsola, Dept Pediat, Rare Dis Unit, Ist Ric & Cura Carattere Sci IRCCS, Bologna, Bologna, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Vicchio, Piera
论文数: 0 引用数: 0
h-index: 0
机构:
Jazzolino Hosp, Dept Pediat, Vibo Valentia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Cannavo, Salvatore
论文数: 0 引用数: 0
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机构:
Univ Messina, Dept Human Pathol DETEV G Barresi, Unit Endocrinol, Messina, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Celli, Mauro
论文数: 0 引用数: 0
h-index: 0
机构:
Azienda Osped Univ AOU Policlin Umberto 1, Rare Bone Metab Ctr, Rome, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Petrizzelli, Francesco
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Lab Bioinformat, San Giovanni Rotondo, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Mastroianno, Mario
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Sci Direct, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Castori, Marco
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Scillitani, Alfredo
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Unit Endocrinol, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy

Guarnieri, Vito
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy Fdn Ist Ric & Cura Carattere Sci IRCCS Casa Sollie, Div Med Genet, Foggia, Italy
[9]
The Global ALPL gene variant classification project: Dedicated to deciphering variants
[J].
Farman, Mariam R.
;
Rehder, Catherine
;
Malli, Theodora
;
Rockman-Greenberg, Cheryl
;
Dahir, Kathryn
;
Martos-Moreno, Gabriel Angel
;
Linglart, Agnes
;
Ozono, Keiichi
;
Seefried, Lothar
;
del Angel, Guillermo
;
Webersinke, Gerald
;
Barbazza, Francesca
;
John, Lisa K.
;
Mudiyanselage, Sewmi M. A. Delana
;
Hoegler, Florian
;
Nading, Erica Burner
;
Huggins, Erin
;
Rush, Eric T.
;
El-Gazzar, Ahmed
;
Kishnani, Priya S.
;
Hoegler, Wolfgang
.
BONE,
2024, 178

Farman, Mariam R.
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Rehder, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Dept Pathol, Durham, NC USA Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Malli, Theodora
论文数: 0 引用数: 0
h-index: 0
机构:
Ordensklinikum Linz, Lab Mol Genet Diagnost, Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Rockman-Greenberg, Cheryl
论文数: 0 引用数: 0
h-index: 0
机构:
Rady Fac Hlth Sci, Dept Pediat, Winnipeg, MB, Canada
Rady Fac Hlth Sci, Child Hlth Max Rady Coll Med, Winnipeg, MB, Canada Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Dahir, Kathryn
论文数: 0 引用数: 0
h-index: 0
机构:
Vanderbilt Univ, Med Ctr, Program Metab Bone Disorders, Nashville, TN USA Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Martos-Moreno, Gabriel Angel
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Infantil Univ Nino Jesus, Dept Pediat, Madrid, Spain
Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Madrid, Spain
Univ Autonoma Madrid, Dept Pediat, Madrid, Spain
ISCIII, CIBER Fisiopatol Obesidad & Nutr, Madrid, Spain Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Linglart, Agnes
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Saclay Univ, Bicetre Paris Saclay Hosp, AP HP, INSERM, Le Kremlin-Bicetre, France Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Ozono, Keiichi
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Dept Pediat, Osaka, Japan Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Seefried, Lothar
论文数: 0 引用数: 0
h-index: 0
机构:
Julius Maximilian Univ, Wurzburg, Germany Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

del Angel, Guillermo
论文数: 0 引用数: 0
h-index: 0
机构:
AstraZeneca Rare Dis, Alexion, Boston, MA USA Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Webersinke, Gerald
论文数: 0 引用数: 0
h-index: 0
机构:
Ordensklinikum Linz, Lab Mol Genet Diagnost, Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Barbazza, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

John, Lisa K.
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Mudiyanselage, Sewmi M. A. Delana
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Hoegler, Florian
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Nading, Erica Burner
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Huggins, Erin
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Rush, Eric T.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Hosp, Div Clin Genet, Kansas City, MO USA
Univ Kansas, Sch Med, Dept Internal Med, Kansas City, KS USA
Univ Missouri, Sch Med, Dept Pediat, Kansas City, MO 65211 USA Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

El-Gazzar, Ahmed
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Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Kishnani, Priya S.
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Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria

Hoegler, Wolfgang
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机构:
Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria
Johannes Kepler Univ Linz, Dept Pediat & Adolescent Med, Krankenhausstr 26-30, A-4020 Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Linz, Austria
[10]
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management
[J].
Fratzl-Zelman, Nadja
;
Linglart, Agnes
;
Bin, Kim
;
Rauch, Frank
;
Blouin, Stephane
;
Coutant, Regis
;
Donzeau, Aurelie
.
EUROPEAN JOURNAL OF MEDICAL GENETICS,
2023, 66 (11)

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Linglart, Agnes
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机构:
Paris Saclay Univ, AP HP, Reference Ctr Rare Dis Calcium & Phosphate Metab,P, EndoERN & BOND ERN Ctr,Endocrinol & Diabet Childre, Paris, France Ludwig Boltzmann Inst, Osteol Hanusch Hosp OEGK, Vienna, Austria

Bin, Kim
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机构:
Pediat Orthoped Surg Angers Univ Hosp, Angers, France Ludwig Boltzmann Inst, Osteol Hanusch Hosp OEGK, Vienna, Austria

Rauch, Frank
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Shriners Hosp Children, Montreal, PQ, Canada Ludwig Boltzmann Inst, Osteol Hanusch Hosp OEGK, Vienna, Austria

Blouin, Stephane
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机构:
Ludwig Boltzmann Inst, Osteol Hanusch Hosp OEGK, Vienna, Austria
1st Med Dept Hanusch Hosp, AUVA Trauma Ctr Meidling, Vienna, Austria
Vienna Bone & Growth Ctr, Vienna, Austria Ludwig Boltzmann Inst, Osteol Hanusch Hosp OEGK, Vienna, Austria

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Donzeau, Aurelie
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机构:
Angers Univ Hosp, Competence Ctr Rare Dis Calcium & Phosphate Metab, Dept Pediat Endocrinol & Diabetol, Angers, France Ludwig Boltzmann Inst, Osteol Hanusch Hosp OEGK, Vienna, Austria