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Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia

✍ Scribed by T F Lang; J R Parr; E E Matthews; R G F Gray; J R Bonham; J D S Kay

Book ID
111130703
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
49 KB
Volume
50
Category
Article
ISSN
0012-1622

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Prenatal diagnosis of non-ketotic hyperg
Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli–Arab mutations
✍ Shigeo Kure; Marie-Odile Rolland; Jaako Leisti; Hanna Mandel; Yoshiyuki Sakata; πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 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