Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis.

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作者信息

Coude M, Bonnefont J P, Charpentier C, Chadefaux B, Saudubray J M, Kamoun P

机构信息

Laboratoire de Biochimie Médicale B, Hôpital Necker Enfants Malades, Paris, France.

出版信息

J Inherit Metab Dis. 1989;12(1):95-6. doi: 10.1007/BF01805538.

DOI:10.1007/BF01805538

PMID:2501591

Abstract

摘要

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Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis.

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Inherited metabolic diseases in the sudden infant death syndrome.婴儿猝死综合征中的遗传性代谢疾病。

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本文引用的文献

Studies on the urinary acidic metabolites excreted by patients with beta-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry.利用气液色谱法和质谱法对β-甲基巴豆酰甘氨酸尿症、丙酸血症和甲基丙二酸血症患者尿液中的酸性代谢产物进行的研究。

Clin Chim Acta. 1974 Mar;52(1):43-51. doi: 10.1016/0009-8981(74)90386-6.

Lethal multiple acyl-CoA dehydrogenation deficiency with dysmorphic features.伴有畸形特征的致死性多种酰基辅酶A脱氢酶缺乏症

J Inherit Metab Dis. 1987;10(1):95-6. doi: 10.1007/BF01799495.

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells.快速产前和产后检测丙酸、甲基丙二酸和钴胺素代谢的先天性代谢缺陷：一种使用培养细胞的灵敏检测方法。

Hum Genet. 1976 Dec 15;34(3):277-83. doi: 10.1007/BF00295291.

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