First trimester prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria. - Suppr | 超能文献

First trimester prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria.

作者信息

Chalmers R A, Mistry J, Penketh R, McFadyen I R

机构信息

Perinatal and Child Health, MRC Clinical Research Centre, Harrow, UK.

出版信息

J Inherit Metab Dis. 1989;12 Suppl 2:283-5. doi: 10.1007/BF03335399.

DOI:10.1007/BF03335399

Abstract

摘要

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本文引用的文献

1

3-Hydroxy-3-methylglutaric aciduria.3-羟基-3-甲基戊二酸尿症

J Neurogenet. 1984 Apr;1(2):165-73. doi: 10.3109/01677068409107082.

2

Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.通过气相色谱 - 质谱联用（GC-MS）以及对培养的羊水细胞和绒毛膜绒毛进行酶学分析对3-羟基-3-甲基戊二酸尿症进行产前诊断。

J Inherit Metab Dis. 1989;12(3):286-92. doi: 10.1007/BF01799219.

3

Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary management.患有3-羟基-3-甲基戊二酸尿症的双卵双胞胎；不寻常的表现、家族研究及饮食管理。

Eur J Pediatr. 1985 Jul;144(2):177-81. doi: 10.1007/BF00451909.