Linked Life Data

407951

Source:http://linkedlifedata.com/resource/pubmed/id/407951

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1977-10-31
pubmed:abstractText
The authors describe two cases of clinical Fabry's disease. The first patient presents a deficiency of alpha galactosidase and a urinary excretion of ceramide trihexosides and dihexosides ; the second patient had a normal alpha galactosidase and normal excretion of urinary lipids. In this latter case the Km and the activity of the enzyme measured at different pH were similar to those of normal enzyme. The other lysosomal enzymes, beta galactosidase, beta glucosidase, hexosaminidases A and B, alpha fucosidase, arylsulfatases, phosphatase acids were also measured in patient 2 and all have normal activities. There is no urinary excretion of glycolipids or mucopolysaccharides. Yet this patient has an accumulation of material in his fibroblasts and renal cells. The authors also present a genetic study.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0300-0893
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
194-201
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1977
pubmed:articleTitle
Pseudo-clinical Fabry's disease without alpha galactosidase deficiency.
pubmed:publicationType
Journal Article, Case Reports