Titre:
  • Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency
Auteur:Cohen, Leslie H F; Vamos, Eszter; Heinrichs, Claudine; Toppet, Michèle; Courtens, Winnie; Kumps, Alain; Mardens, Yves Léonce; Carlsson, Birgit; Grillner, Lena; Larsson, Agne
Informations sur la publication:European journal of pediatrics, 156, 12, page (935-938)
Statut de publication:Publié, 1997
Sujet CREF:Pédiatrie
Mots-clés:5- Oxoprolin-uria Rett Syndrome
Carbohydrate-deficient glycoprotein syndrome
Gonadal dysgenesis
Thyroid dysfunction
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0340-6199
info:doi/10.1007/s004310050746
info:scp/14444270881
info:pmid/9453376