Linked Life Data

7460371

Source:http://linkedlifedata.com/resource/pubmed/id/7460371

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1981-4-21
pubmed:abstractText
Two brothers with an unusual form of fucosidosis are presented, providing further evidence for the clinical heterogeneity of the disease. The patients have several characteristics of type II, but from the point of view of progression rate and survival, they resemble more type III. However, the characteristic skin lesions of type III are not seen. In contrast to all other subtypes, a dry, thin skin is observed. The authors tend to classify these patients as a "slow motion" type II variant. Both in leukocyte lysates and plasma, severe alpha-L-fucosidase deficiency was established. In the parents, intermediate alpha-L-fucosidase activities were observed in leukocytes, but normal values in plasma, indicating that plasma is not suitable for carrier detection in this family. It is felt that no conclusions regarding clinical subtypes of fucosidosis can be drawn without careful characterization of the mutant enzyme in the primarily affected tissues.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
348-54
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1980
pubmed:articleTitle
Two patients with an unusual form of type II fucosidosis.
pubmed:publicationType
Journal Article, Case Reports