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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1975-5-19
|
| pubmed:abstractText |
Studies of eight patients with this syndrome confirm the characteristic pattern of abnormalities and the autosomal recessive mode of inheritance. The incidence is estimated to be approximately 1 in 100,000 live births. The liver lesion proved to be variable, with features of progressive parenchymal damage rather than a developmental defect of small bile ducts as previously suggested. Elevated levels of pipecolic acid were found in blood and urine and may be related to the basic defect.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0022-3476
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
86
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
382-7
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:1113225-Acidosis,
pubmed-meshheading:1113225-Australia,
pubmed-meshheading:1113225-Bone Diseases,
pubmed-meshheading:1113225-Brain Diseases,
pubmed-meshheading:1113225-Humans,
pubmed-meshheading:1113225-Iron,
pubmed-meshheading:1113225-Kidney,
pubmed-meshheading:1113225-Kidney Diseases,
pubmed-meshheading:1113225-Liver,
pubmed-meshheading:1113225-Liver Diseases,
pubmed-meshheading:1113225-Pedigree,
pubmed-meshheading:1113225-Pipecolic Acids,
pubmed-meshheading:1113225-Syndrome
|
| pubmed:year |
1975
|
| pubmed:articleTitle |
Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.
|
| pubmed:publicationType |
Journal Article
|