Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1977-10-28
|
| pubmed:abstractText |
The clinical course and biochemical findings in a case of carbamyl-phosphate-synthetase deficiency are described. The patient, a boy, presented 48 h after birth with rapidly developing hypotonia and hypothermia. Pulmonary haemorrhage, melaena and haematemesis ensued and despite ventilatory assistance and peritoneal dialysis the patient died on the fifth day. A virtual absence of carbamyl phosphate synthetase I (N-acetylglutamate dependent) was proved by analysis of tissue samples removed post mortem. Other urea cycle enzymes were normal.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0001-656X
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
66
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
529-34
|
| pubmed:dateRevised |
2009-11-11
|
| pubmed:meshHeading |
pubmed-meshheading:197778-Amino Acids,
pubmed-meshheading:197778-Carbamoyl-Phosphate Synthase (Ammonia),
pubmed-meshheading:197778-Humans,
pubmed-meshheading:197778-Hypothermia,
pubmed-meshheading:197778-Infant, Newborn,
pubmed-meshheading:197778-Infant, Newborn, Diseases,
pubmed-meshheading:197778-Male,
pubmed-meshheading:197778-Metabolism, Inborn Errors,
pubmed-meshheading:197778-Muscle Hypotonia,
pubmed-meshheading:197778-Phosphotransferases,
pubmed-meshheading:197778-Respiration, Artificial
|
| pubmed:year |
1977
|
| pubmed:articleTitle |
Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|