|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
9
|
|
pubmed:dateCreated |
1999-9-23
|
|
pubmed:abstractText |
Patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that the neurologic abnormalities seen in this disease were exclusively the consequences of these acute crises. Experience with 2 patients with propionic acidemia indicates that this disease may present first with prominent neurologic disease without the life-threatening episodes of ketoacidosis that usually serve as the alerting signals for a diagnosis of an organic acidemia.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Sep
|
|
pubmed:issn |
0003-9942
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
56
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1143-7
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:10488817-Adult,
pubmed-meshheading:10488817-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:10488817-Brain,
pubmed-meshheading:10488817-Carboxy-Lyases,
pubmed-meshheading:10488817-Central Nervous System Diseases,
pubmed-meshheading:10488817-Child,
pubmed-meshheading:10488817-Diagnosis, Differential,
pubmed-meshheading:10488817-Fibroblasts,
pubmed-meshheading:10488817-Humans,
pubmed-meshheading:10488817-Lymphocytes,
pubmed-meshheading:10488817-Magnetic Resonance Imaging,
pubmed-meshheading:10488817-Male,
pubmed-meshheading:10488817-Methylmalonyl-CoA Decarboxylase,
pubmed-meshheading:10488817-Phenotype,
pubmed-meshheading:10488817-Propionic Acids
|
|
pubmed:year |
1999
|
|
pubmed:articleTitle |
Neurologic nonmetabolic presentation of propionic acidemia.
|
|
pubmed:affiliation |
Department of Pediatrics, University of California, San Diego 92093-0830, USA.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
