Linked Life Data

7151835

Source:http://linkedlifedata.com/resource/pubmed/id/7151835

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1983-3-11
pubmed:abstractText
We describe two sibs with coarse facies, hepatosplenomegaly, prominent psychomotor retardation and unexpectedly fair complexion. Ultrastructural studies of conjunctival, skin, bone marrow and liver biopsies from these individuals showed generalized lysosomal storage of polysaccharide-like material, i.e., membrane bound inclusions containing sparse, fibrillo-granular material. Biochemical analyses of urine and cultured fibroblasts from these patients revealed increased levels of free (unbound) sialic acid. The ultrastructural and biochemical findings in these sibs are similar to those previously found in Salla disease, however, the clinical course is much more severe. It is concluded that these children represent a new pathogenetic entity whose basic defect is still to be defined.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
139
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
142-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't