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Problems of prenatal diagnosis of non-ketotic hyperglycinaemia

✍ Scribed by L. V. Wendt; S. Similä; A. Ruokonen; A. -L. Hartikainen-Sorri

Publisher
Springer
Year
1983
Tongue
English
Weight
239 KB
Volume
6
Category
Article
ISSN
0141-8955

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✍ Shigeo Kure; Marie-Odile Rolland; Jaako Leisti; Hanna Mandel; Yoshiyuki Sakata; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 124 KB

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