Linked Life Data

6143469

Source:http://linkedlifedata.com/resource/pubmed/id/6143469

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1984-5-8
pubmed:abstractText
A 7-year-old girl who showed retarded psychomotor development and generalized hypotonia without any signs of progression is described. Marked deficiency of arylsulfatase A activity in leukocytes and fibroblasts was observed. Both parents showed activity in cultured fibroblasts within the heterozygote-normal range. Cerebroside-sulfatase activity was absent in cultured fibroblasts from the patient. Urinary analyses revealed a pathologically increased sulfatide excretion. Normal sensory nerve conduction velocity was found, but no metachromatic material was found in a sural nerve biopsy. Loading of the patient's fibroblasts with sulfatides resulted in normal uptake and normal degradation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0001-656X
pubmed:author
pubmed:issnType
Print
pubmed:volume
72
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
837-41
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't