Linked Life Data

1836753

Source:http://linkedlifedata.com/resource/pubmed/id/1836753

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1992-2-6
pubmed:abstractText
A 15-year-old girl is described with brachyolmia. She presented with short-trunked dwarfism, hypolordosis of the lower spine and radiological features of the disease. She was initially considered to have a mucopolysaccharidosis (type III Sanfilippo) on account of a pathological urinary glycosaminoglycan excretion pattern. The amount of urinary glycosaminoglycans was normal, but we found an increased amount of an undersulphated chondroitin sulphate molecule. Our finding of an undersulphated glycosaminoglycan points to a disturbance in chondroitin sulphate synthesis, and it is rare that a defect in glycosaminoglycan synthesis leads to a skeletal dysplasia. To our knowledge, this is the second case of brachyolmia with a possible defect in chondroitin sulphate-sulphotransferase.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
312-7
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion.
pubmed:affiliation
Universitäts-Kinderklinik Frankfurt, Germany.
pubmed:publicationType
Journal Article, Case Reports