Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?

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作者信息

Ged C, el Sebai H, de Verneuil H, Parrot-Rouleau F

机构信息

Laboratoire de Biochimie, Diagnostic des maladies métaboliques, Hôpital Pellegrin-Tripode, Bordeaux, France.

出版信息

J Inherit Metab Dis. 1995;18(2):253-6. doi: 10.1007/BF00711781.

DOI:10.1007/BF00711781

PMID:7564261

Abstract

摘要

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Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?

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引用本文的文献

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France.在法国，大多数中链酰基辅酶A脱氢酶缺乏症病例未被检测出来。

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The A985G mutation in the medium-chain acyl-CoA dehydrogenase gene: high prevalence in the Swiss population resident in Geneva.

J Inherit Metab Dis. 1995;18(5):577-83. doi: 10.1007/BF02436002.

本文引用的文献

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.中链酰基辅酶A脱氢酶（MCAD）缺乏症：通过血液中酰基肉碱分析进行诊断。

Am J Hum Genet. 1993 May;52(5):958-66.

The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome.婴儿猝死综合征中编码中链酰基辅酶A脱氢酶的基因致病点突变的频率。

Acta Paediatr. 1993 Jun-Jul;82(6-7):544-6. doi: 10.1111/j.1651-2227.1993.tb12749.x.

J Inherit Metab Dis. 1993;16(6):991-3. doi: 10.1007/BF00711516.

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

J Inherit Metab Dis. 1994;17(2):169-84. doi: 10.1007/BF00711614.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.中链酰基辅酶A脱氢酶（MCAD）缺乏症：常见突变G985（K304E）受到来自西北欧的强烈奠基者效应影响。

Hum Hered. 1993 Nov-Dec;43(6):342-50. doi: 10.1159/000154157.

Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.儿童猝死与患有中链酰基辅酶A脱氢酶缺乏症的“健康”受影响家庭成员

Pediatrics. 1986 Dec;78(6):1052-7.

Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening.使用用于新生儿筛查的吸水纸上的干血标本对镰状细胞病进行分子遗传学诊断。

Hum Genet. 1989 Mar;81(4):363-6. doi: 10.1007/BF00283692.

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.

Lancet. 1991 Aug 31;338(8766):552-3. doi: 10.1016/0140-6736(91)91110-g.

Frequency of the G985 MCAD mutation in the general population.

Lancet. 1991 Feb 2;337(8736):298-9. doi: 10.1016/0140-6736(91)90907-7.

Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.婴儿猝死综合征中中链酰基辅酶A脱氢酶缺乏症G-985突变的发生率

Pediatr Res. 1992 Apr;31(4 Pt 1):305-7. doi: 10.1203/00006450-199204000-00001.

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