Problems of prenatal diagnosis of non-ketotic hyperglycinaemia.

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.

参考文章(9)
M. Koivisto, A. L. Saukkonen, S. Simila, L. von Wendt, Failure of strychnine treatment during the neonatal period in three Finnish children with nonketotic hyperglycinemia. Pediatrics. ,vol. 65, pp. 1166- 1169 ,(1980)
José M. García-Castro, Carlos M. Isales-Forsythe, Harvey L. Levy, Vivian E. Shih, Carlos R. Laó-Vélez, María del Carmen González-Ríos, Luz C. Reyes de Torres, Prenatal Diagnosis of Nonketotic Hyperglycinemia New England Journal of Medicine. ,vol. 306, pp. 79- 81 ,(1982) , 10.1056/NEJM198201143060205
N. A. J. Carson, Non-ketotic hyperglycinaemia — A review of 70 patients Journal of Inherited Metabolic Disease. ,vol. 5, pp. 126- 128 ,(1982) , 10.1007/BF01805579
A. Brun, M. Börjeson, B. Hultberg, S. Sjöblad, H. Akesson, E. Litwin, Neonatal non-ketotic hyperglycinemia: a clinical, biochemical and neuropathological study including electronmicroscopic findings. Neuropediatrics. ,vol. 10, pp. 195- 205 ,(1979) , 10.1055/S-0028-1085325
Kazuko Fujiwara, Kazuko Okamura, Yutaro Motokawa, Hydrogen carrier protein from chicken liver: Purification, characterization, and role of its prosthetic group, lipoic acid, in the glycine cleavage reaction Archives of Biochemistry and Biophysics. ,vol. 197, pp. 454- 462 ,(1979) , 10.1016/0003-9861(79)90267-4
LENNART VON WENDT, Prenatal Brain Damage in Nonketotic Hyperglycinemia Archives of Pediatrics & Adolescent Medicine. ,vol. 135, pp. 1072- 1072 ,(1981) , 10.1001/ARCHPEDI.1981.02130350072026
P. Ylostalo, L. Tuderman, E.-R. Kuutti, P. A. Jarvinen, AMINO ACID COMPOSITION OF AMNIOTIC FLUID IN INTRAHEPATIC CHOLESTASIS OF PREGNA4NCY, PRE-ECLAMPSIA AND RHESUS INCOMPATIBILITY BJOG: An International Journal of Obstetrics and Gynaecology. ,vol. 82, pp. 786- 789 ,(1975) , 10.1111/J.1471-0528.1975.TB00574.X
Victor A. McKusick, Mendelian Inheritance in Man ,(1971)