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
Author(s)
Burlina  A. B., Gibson  K. M., Ruitenbeek  W., Bonafe  L., Bennett  M. J.
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
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
Usage data