Linked Life Data

6224421

Source:http://linkedlifedata.com/resource/pubmed/id/6224421

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1983-9-9
pubmed:abstractText
Two children of second-cousin parents were found to have a very mild form of Morquio syndrome. The 14-year-old boy was 147 cm tall and had fine corneal deposits, a broad chest, dislocated hips, and flat feet. His 7-year-old sister had a broad chest but otherwise normal physical development. An abnormal lumbar spine was seen in radiographs of both children. Analysis of the urine from the affected children showed levels of acid mucopolysaccharides (AMPS) up to twice as high as that found in normal urine, but no evidence of keratosulfaturia. Most urinary AMPS was chondroitin-6-sulfate. Multiple assays of N-acetylgalactosamine-6-sulfate (GalNAc-6-SO4) sulfatase in leukocytes and cultured skin fibroblasts showed deficiency of this enzyme in the range found in the classical form of Morquio (Morquio A) syndrome. This report identifies an enzymatic defect in one form of non-keratan-sulfate-excreting Morquio (NKSE Morquio) syndrome and confirms the absence of keratosulfaturia in this mild form of Morquio disease.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
265-73
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't