|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
1994-11-10
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|
pubmed:abstractText |
Prenatal diagnosis for glutathione synthase (EC 6.3.2.3) deficiency in two pregnancies of an at-risk couple was performed on amniotic fluid taken at 16 weeks' gestation. 5-Oxoproline (pyroglutamic acid) levels were 970 and 790 mumol/l compared with the normal mean value of 29 mumol/l (range 13-51 mumol/l). The pregnancies were terminated and the diagnosis in one case was subsequently confirmed by assay of glutathione synthase in cultured fetal fibroblasts. In the other, post-mortem tissue samples failed to grow.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
0197-3851
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
14
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
475-8
|
|
pubmed:dateRevised |
2004-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:7937585-Adult,
pubmed-meshheading:7937585-Amniotic Fluid,
pubmed-meshheading:7937585-Cells, Cultured,
pubmed-meshheading:7937585-Female,
pubmed-meshheading:7937585-Fibroblasts,
pubmed-meshheading:7937585-Glutathione Synthase,
pubmed-meshheading:7937585-Humans,
pubmed-meshheading:7937585-Hydrogen-Ion Concentration,
pubmed-meshheading:7937585-Pregnancy,
pubmed-meshheading:7937585-Prenatal Diagnosis,
pubmed-meshheading:7937585-Pyrrolidonecarboxylic Acid,
pubmed-meshheading:7937585-Reference Values
|
|
pubmed:year |
1994
|
|
pubmed:articleTitle |
Prenatal diagnosis of glutathione synthase deficiency.
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|
pubmed:affiliation |
Sheffield Children's Hospital, Western Bank, UK.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
