Your browser doesn't support javascript.
loading
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
Sabry, S; Vuillaumier-Barrot, S; Mintet, E; Fasseu, M; Valayannopoulos, V; Héron, D; Dorison, N; Mignot, C; Seta, N; Chantret, I; Dupré, T; Moore, S E H.
Afiliación
  • Sabry S; INSERM U1149, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, Paris, France.
  • Vuillaumier-Barrot S; Université Denis Diderot, Paris 7, Paris, France.
  • Mintet E; Université Pierre et Marie Curie, Paris 6, Paris, France.
  • Fasseu M; Biochemical Genetics Department, Human Genetics Division, National Research Center NRC, Cairo, Egypt.
  • Valayannopoulos V; INSERM U1149, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, Paris, France.
  • Héron D; Université Denis Diderot, Paris 7, Paris, France.
  • Dorison N; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie, Paris, France.
  • Mignot C; INSERM U1149, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, Paris, France.
  • Seta N; Université Denis Diderot, Paris 7, Paris, France.
  • Chantret I; INSERM U1149, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, Paris, France.
  • Dupré T; Université Denis Diderot, Paris 7, Paris, France.
  • Moore SE; Département de Pédiatrie, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.
Orphanet J Rare Dis ; 11(1): 84, 2016 06 24.
Article en En | MEDLINE | ID: mdl-27343064
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Transferasas Alquil y Aril Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Transferasas Alquil y Aril Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2016 Tipo del documento: Article