The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS.

作者信息

Chalmers R A, Tracey B M, King G S, Pettit B, Rocchiccioli F, Saudubray J M, Gray R G, Boué J, Keeling J W, Lindenbaum R H

出版信息

J Inherit Metab Dis. 1985;8 Suppl 2:145-6. doi: 10.1007/BF01811501.

DOI:10.1007/BF01811501

PMID:3930871

Abstract

摘要

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The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS.

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本文引用的文献

Eur J Pediatr. 1984 Jan;141(3):153-7. doi: 10.1007/BF00443213.

Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally.II型戊二酸尿症：对一名产前诊断患儿的生化检查与治疗

J Inherit Metab Dis. 1984;7(2):57-61. doi: 10.1007/BF01805802.

Prenatal diagnosis of dysmorphic neonatal-lethal type II glutaricaciduria.新生儿致死性II型戊二酸尿症的产前诊断

Lancet. 1984 Apr 14;1(8381):846-7. doi: 10.1016/s0140-6736(84)92290-6.

Antenatal diagnosis of glutaricaciduria type II.II型戊二酸尿症的产前诊断

Lancet. 1983 May 14;1(8333):1099. doi: 10.1016/s0140-6736(83)91929-3.

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