Linked Life Data

6422616

Source:http://linkedlifedata.com/resource/pubmed/id/6422616

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1984-4-20
pubmed:abstractText
In addition to the triad in the Hermansky-Pudlak syndrome (tyrosine-positive oculocutaneous albinism, mild bleeding tendency with a normal platelet-count and widespread accumulation of ceroid-like pigment in various organs), we document severe pulmonary fibrosis, pseudomelanosis coli and deeply pigmented renal cortex. In the liver, innumerable number of pigment-laden Kupffer cells and macrophages in the Glisson capsule were seen. Interestingly, many intralysosomal accumulations of the pigment within the hepatocytes were found by electron microscopy, suggesting that these configurations possibly resulted from a dysfunction of the lysosome itself, especially with regard to loss of digestive and secretory activity. The triad and other complications may also be resultants of a lysosomal dysfunction.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0174-7398
pubmed:author
pubmed:issnType
Print
pubmed:volume
402
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
247-58
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction. A case report and review of the literature.
pubmed:publicationType
Journal Article, Case Reports