Linked Life Data

2958659

Source:http://linkedlifedata.com/resource/pubmed/id/2958659

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1987-11-6
pubmed:abstractText
We report a case of a black infant who died at 9 months of age with clinical and pathological findings consistent with the acute neuronopathic form of Gaucher disease (Type 2). Analysis of peripheral blood platelets obtained from this child demonstrated very low levels of beta-glucosidase activity. beta-hexosaminidase (HEX) activity in the serum, however, was 30 times greater than the level in control sera and 15 times greater than the level observed in individuals affected with the chronic form of Gaucher disease (Type 1). Similarly, alpha-D-mannosidase (MANN) activity in the proband's serum was significantly elevated when compared with controls, and chronic Gaucher disease patients. We postulate that the cause of the elevation of these lysosomal enzymes is similar to the cause of elevation in Type 1 individuals but that patients with Type 2 Gaucher disease have a more serious cellular defect.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
111-4
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Elevation of serum beta-hexosaminidase and alpha-D-mannosidase in type 2 Gaucher disease: a clinical and biochemical study.
pubmed:affiliation
Department of Pediatrics (Division of Genetics), Montefiore Medical Center, Bronx, New York 10461.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't