Linked Life Data

2492654

Source:http://linkedlifedata.com/resource/pubmed/id/2492654

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1989-3-14
pubmed:abstractText
The defect of the enzyme heparan sulfamidase is the cause of Sanfilippo A syndrome (mucopolysaccharidosis IIIA) which is an autosomal recessive inherited disease. Three children of a marriage couple who attended our genetical counselling died of this disease which at the moment is incurable. At the 10th week of the following pregnancy chorion villi analysis was carried out and normal values of the enzyme heparan sulfamidase were obtained. In view of this it was decided that pregnancy should continue. At the moment the child is one year old and clinical and laboratory findings also show that she is not affected.
pubmed:language
hun
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0030-6002
pubmed:author
pubmed:issnType
Print
pubmed:day
29
pubmed:volume
130
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
233-4
pubmed:dateRevised
2009-10-21
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
[Ruling out fetal Sanfilippo's syndrome (mucopolysaccharidosis IIIA) in the first trimester of pregnancy].
pubmed:publicationType
Journal Article, English Abstract, Case Reports