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Prenatal diagnosis of Non-ketotic hyperglycinaemia

✍ Scribed by J. R. Toone; D. A. Applegarth; H. L. Levy


Publisher
Springer
Year
1992
Tongue
English
Weight
515 KB
Volume
15
Category
Article
ISSN
0141-8955

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Prenatal diagnosis for non-ketotic hyperglycinaemia (NKH) was performed by enzymatic analysis of chorionic villus samples in 28 families and by DNA analysis in two families. In 26 families, enzymatic analysis of the glycine cleavage multi-enzyme system (GCS) yielded an unambiguous diagnosis; inconcl

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