作者: L. V. Wendt , S. Similä , A. Ruokonen , A. -L. Hartikainen-Sorri
DOI: 10.1007/BF01800740
关键词:
摘要: Non-ketotic hyperglycinaemia (NKH) is a rare disorder of amino acid metabolism, causing severe, frequently lethal neurological symptoms in the neonatal period. There no curative therapy, and attempts at prenatal diagnosis have been unsuccessful.