作者：
Wladimir,Mauhin [1]
;
Florence,Habarou [2]
;
Stéphanie,Gobin [3]
;
Aude,Servais [1]
;
Anaïs,Brassier [4]
;
Coraline,Grisel [1]
;
Célina,Roda [1]
;
Graziella,Pinto [1]
;
Despina,Moshous [5]
;
Fahd,Ghalim [6]
;
Pauline,Krug [7]
;
Nelly,Deltour [8]
;
Clément,Pontoizeau [3]
;
Sandrine,Dubois [2]
;
Murielle,Assoun [1]
;
Louise,Galmiche [1]
;
Jean-Paul,Bonnefont [9]
;
Chris,Ottolenghi [3]
;
Jacques,de Blic [2]
;
Jean-Baptiste,Arnoux [10]
;
Pascale,de Lonlay [1]
作者单位：
Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.
[1]
Metabolic Biochemistry, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.
[2]
Molecular Genetics, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.
[3]
Nephrology Unit, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.
[4]
Endocrinoloy Unit, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.
[5]
Paediatric Immunology, Haematology and Rheumatology, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.
[6]
Gastroenterology, Kremlin Bicêtre Hospital, AP-HP, University Paris Sud, Paris, France.
[7]
Nephrology, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.
[8]
Anatomopathology, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.
[9]
Pneumology, Hospital Necker Enfants Malades, AP-HP, University Paris Descartes, Paris, France.
[10]
Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France. pascale.delonlay@aphp.fr.
[11]
Reference Center of Metabolic Disease Unit, Université Paris Descartes, Hôpital Necker-Enfants Malades, Institute Imagine, INSERM-U781, 149 rue de Sèvres, 75015, Paris, France. pascale.delonlay@aphp.fr.
[12]
DOI
10.1186/s13023-016-0550-8
PMID
28057010
发布时间
2018-11-13
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