Linked Life Data

104545

Source:http://linkedlifedata.com/resource/pubmed/id/104545

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1979-3-13
pubmed:abstractText
A 17-year-old patient clinically manifesting gargoyle face, dwarfism, skeletal bone deformity, mild mental retardation and benign course was presented. Biochemically, increased urinary excretion of acidic glycosaminoglycans was confirmed and chondroitin 4-sulfate and chondroitin 6-sulfate were substantiated to be the major components of the acid mucopolysacchariduria. Light microscopically, variable numbers of foam cells were observed in the biopsy materials of the lymph nodes, liver and skin, as well as in the smears of bone marrow aspirates. In the liver, the parenchymal cells appeared vacuolated. Histochemically, accumulation of sulfated acid glycosaminoglycans was demonstrated in the cytoplasm of the foam cells proliferating in these tissues, as well as in the liver cells. Electron microscopically, all of these storage cells were found to contain numerous, membrane-bound, vacuolar inclusions filled with flocculent, finely reticulogranular materials of low electron density similar to those seen in the storage cells of Hurler, Hunter or Sanfilippo's syndrome. Empty vacuoles were often coexistent. Accordingly, this case should be termed "chondroitin 4- and 6-sulfate mucopolysaccharidosis", with emphasis on the possibility of a new type of genetic mucopolysaccharidosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0001-6632
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
979-93
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Chondroitin 4- and 6-sulfate mucopolysaccharidosis--a morphological study.
pubmed:publicationType
Journal Article, Case Reports