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Non-ketotic hyperglycinaemia in a family with an unusual phenotype

โœ Scribed by T. Ando; W. L. Nyhan; Joan Bicknell; Ruth Harris; J. Stern

Publisher
Springer
Year
1978
Tongue
English
Weight
607 KB
Volume
1
Category
Article
ISSN
0141-8955

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โœ Derek A. Applegarth; Jennifer R. Toone; Marie O. Rolland; Susan H. Black; Dwight ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 65 KB ๐Ÿ‘ 1 views

We report three false negative prenatal diagnostic results, using direct measurement of glycine cleavage enzyme activity in uncultured chorionic villus tissue from 290 pregnancies at risk for non-ketotic hyperglycinaemia (NKH). Testing was done by two centres: Vancouver, Canada and Lyon, France. One