Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism
Details
Serval ID
serval:BIB_4F79781098BF
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism
Journal
Journal of Inherited Metabolic Disease
ISSN
0141-8955
Publication state
Published
Issued date
12/1998
Peer-reviewed
Oui
Volume
21
Number
8
Pages
864-6
Notes
Case Reports
Journal Article --- Old month value: Dec
Journal Article --- Old month value: Dec
Keywords
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
Create date
21/01/2008 12:50
Last modification date
20/08/2019 14:05