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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1992-6-9
|
| pubmed:abstractText |
We report a case of Farber disease (Farber lipogranulomatosis). The main features were a shrill voice, joint swelling, subcutaneous nodules and retarded psychomotor development. Cytological investigation revealed intracytoplasmic inclusion bodies characteristic of Farber disease. Lipid analysis of liver tissue indicated an accumulation of ceramide containing non-hydroxy fatty acids. It was found that the acid ceramidase activity in the liver was reduced to 31% of the control value. In this patient there was also persistent diarrhea, cholelithiasis, transient proteinuria and increased urinary total sialic acids. These features have not been noted in previously reported cases.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
0374-5600
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
34
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
72-9
|
| pubmed:dateRevised |
2008-11-21
|
| pubmed:meshHeading | |
| pubmed:year |
1992
|
| pubmed:articleTitle |
A case of Farber disease.
|
| pubmed:affiliation |
Department of Pediatrics, Kokura Memorial Hospital, Japan.
|
| pubmed:publicationType |
Journal Article,
Review,
Case Reports
|