Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism
Détails
ID Serval
serval:BIB_4F79781098BF
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism
Périodique
Journal of Inherited Metabolic Disease
ISSN
0141-8955
Statut éditorial
Publié
Date de publication
12/1998
Peer-reviewed
Oui
Volume
21
Numéro
8
Pages
864-6
Notes
Case Reports
Journal Article --- Old month value: Dec
Journal Article --- Old month value: Dec
Mots-clé
Acetyl-CoA C-Acyltransferase/*deficiency
Amino Acid Metabolism, Inborn Errors/complications/*diagnosis/enzymology
Cells, Cultured
Dicarboxylic Acids/urine
*Energy Metabolism
Fibroblasts/enzymology
Fumarates/urine
Humans
Infant
Isoleucine/*metabolism
Malates/urine
Male
Neurodegenerative Diseases/*etiology
Phenotype
Succinic Acid/urine
Pubmed
Web of science
Création de la notice
21/01/2008 13:50
Dernière modification de la notice
20/08/2019 15:05
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