|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5 Pt 1
|
|
pubmed:dateCreated |
1992-12-18
|
|
pubmed:abstractText |
A 5-year-old girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia was found to excrete excessive fumaric acid in urine. Fumarate hydratase activity in skin fibroblasts was 10% of the control value. This case underscores the clinical heterogeneity of neurometabolic disorders and the importance of organic acid analysis in the diagnosis of static encephalopathy.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
0022-3476
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
121
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
752-4
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:1432428-Cerebral Palsy,
pubmed-meshheading:1432428-Child, Preschool,
pubmed-meshheading:1432428-Diagnostic Errors,
pubmed-meshheading:1432428-Female,
pubmed-meshheading:1432428-Fumarate Hydratase,
pubmed-meshheading:1432428-Fumarates,
pubmed-meshheading:1432428-Humans,
pubmed-meshheading:1432428-Intellectual Disability,
pubmed-meshheading:1432428-Metabolism, Inborn Errors,
pubmed-meshheading:1432428-Muscle Hypotonia,
pubmed-meshheading:1432428-Succinates,
pubmed-meshheading:1432428-Succinic Acid
|
|
pubmed:year |
1992
|
|
pubmed:articleTitle |
Variability of clinical presentation in fumarate hydratase deficiency.
|
|
pubmed:affiliation |
Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
