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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5 Pt 1
|
| pubmed:dateCreated |
1988-1-20
|
| pubmed:abstractText |
Dorfman-Chanarin syndrome in two sisters of Jewish Iraqi origin is reported. This heritable disorder of the metabolism of neutral lipids was manifested by congenital ichthyosis, vacuoles in the leukocytes, and variable involvement of liver, muscle, central nervous system, and the auditory system. In two asymptomatic members of the family leukocyte vacuoles were found as the only sign of the syndrome. Clinical, pathologic, ultrastructural, and biochemical findings are described. Previous reported cases are reviewed.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0190-9622
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
17
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
801-8
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:3316318-Adult,
pubmed-meshheading:3316318-Female,
pubmed-meshheading:3316318-Humans,
pubmed-meshheading:3316318-Ichthyosis,
pubmed-meshheading:3316318-Leukocytes,
pubmed-meshheading:3316318-Lipid Metabolism,
pubmed-meshheading:3316318-Lipidoses,
pubmed-meshheading:3316318-Pedigree,
pubmed-meshheading:3316318-Syndrome,
pubmed-meshheading:3316318-Vacuoles
|
| pubmed:year |
1987
|
| pubmed:articleTitle |
Dorfman-Chanarin syndrome. A case report and a review.
|
| pubmed:affiliation |
Department of Dermatology, Ichilov Medical Center, Tel Aviv, Israel.
|
| pubmed:publicationType |
Journal Article,
Review,
Case Reports
|