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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Dabaj, Ivana; Sudrié-Arnaud, Bénédicte; Lecoquierre, François; Raymond, Kimiyo; Ducatez, Franklin; Guerrot, Anne-Marie; Snanoudj, Sarah; Coutant, Sophie; Saugier-Veber, Pascale; Marret, Stéphane; Nicolas, Gaël; Tebani, Abdellah; Bekri, Soumeya.
Afiliação
  • Dabaj I; Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Sudrié-Arnaud B; Department of Metabolic Biochemistry, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Raymond K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA.
  • Ducatez F; Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Snanoudj S; Department of Metabolic Biochemistry, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Coutant S; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Marret S; Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Tebani A; Department of Metabolic Biochemistry, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
  • Bekri S; Department of Metabolic Biochemistry, Normandie University, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France.
Life (Basel) ; 11(3)2021 Feb 27.
Article em En | MEDLINE | ID: mdl-33673403
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article