作者：
Claire-Marine,Bérat [1]
;
Sebastian,Montealegre [2]
;
Arnaud,Wiedemann [3]
;
Malou Le Corronc,Nuzum [1]
;
Amélie,Blondel [3]
;
Hugo,Debruge [4]
;
Aline,Cano [1]
;
Brigitte,Chabrol [5]
;
Célia,Hoebeke [1]
;
Michel,Polak [6]
;
Athanasia,Stoupa [6]
;
François,Feillet [6]
;
Stéphanie,Torre [2]
;
Nathalie,Boddaert [7]
;
Henri,Bruel [2]
;
Magalie,Barth [7]
;
Lena,Damaj [4]
;
Marie-Thérèse,Abi-Wardé [8]
;
Alexandra,Afenjar [2]
;
Jean-François,Benoist [9]
;
Marine,Madrange [10]
;
Laure,Caccavelli [11]
;
Perrine,Renard [12]
;
Arnaud,Hubas [13]
;
Patrick,Nusbaum [14]
;
Clément,Pontoizeau [5]
;
Stéphanie,Gobin [1]
;
Peter,van Endert [3]
;
Chris,Ottolenghi [1]
;
Alice,Maltret [3]
;
Pascale,de Lonlay [1]
作者单位：
Inserm U1151, Institut Necker Enfants-Malades, Paris, France.
[1]
Université de Paris, Paris, France.
[2]
Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Imagine Institute, Filière G2M, Paris, France.
[3]
Department of Pediatric Intensive Care, Reference Center of Inherited Metabolic Disorders, INSERM U1256, Nancy Hospital, Nancy, France.
[4]
Department of Biochemistry, Necker-Enfants-Malades University Hospital, APHP, Filière G2M, Paris, France.
[5]
Reference Center of Inherited Metabolic Disorders, La Timone Hospital, Filière G2M, Marseille, France.
[6]
Endocrinology Unit, Reference Center of Rare Endocrine Diseases of Growth and Development, Necker-Enfants-Malades, University hospital, APHP, Imagine Institute, Paris, France.
[7]
Competence Center of Inherited Metabolic Disorders, Rouen Hospital, Filière G2M, Rouen, France.
[8]
Paediatric Radiology Department, Necker-Enfants-Malades University hospital, APHP and INSERM U1163, Imagine Institute, Paris, France.
[9]
Pediatrics Department, Le Havre Hospital, Le Havre, France.
[10]
Pediatrics Department, Angers Hospital, Angers, France.
[11]
Pediatrics Department, Rennes Hospital, Rennes, France.
[12]
Pediatrics Department, Strasbourg Hospital, Strasbourg, France.
[13]
Reference Center of Cerebellar Malformations and Congenital Diseases, Trousseau Hospital, APHP, Paris, France.
[14]
Genetics and Molecular Biology, Laboratoire de culture cellulaire, Hôpital Cochin, Paris, France.
[15]
Genetics Department, Necker-Enfants-Malades University Hospital, APHP, Paris, France.
[16]
Cardiology Unit, Necker-Enfants-Malades University Hospital, APHP, Paris, France.
[17]
DOI
10.1002/jimd.12314
PMID
32929747
发布时间
2021-12-24
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