Methylmalonic aciduria in the newborn.
作者信息
Shih V E, Coulombe J T, Maties M, Levy H L
出版信息
N Engl J Med. 1976 Dec 2;295(23):1320-1. doi: 10.1056/nejm197612022952319.
PMID:980070
Abstract
摘要
相似文献
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Methylmalonic aciduria in the newborn.新生儿甲基丙二酸血症
N Engl J Med. 1976 Dec 2;295(23):1320-1. doi: 10.1056/nejm197612022952319.
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Methylmalonic aciduria in an infant of a mother with undiagnosed pernicious anaemia.
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[B12 deficiency in breast-fed children. Maternal deficiency may cause severe symptoms in children].
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Corneal involvement in methylmalonic aciduria.
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Benign methylmalonic aciduria.良性甲基丙二酸尿症
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Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.与甲基丙二酸尿症和含硫氨基酸异常相关的维生素B12缺乏症中的视网膜变性。
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[Methylmalonic aciduria].[甲基丙二酸尿症]
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[Vitamin B 12 responsive methylmalenic aciduria. Apropos of a new case].[维生素B12反应性甲基丙二酸尿症。关于一例新病例]
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Methylmalonic aciduria (1 case report).甲基丙二酸尿症（1例报告）
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Association between vitamin B12 intake and EURRECA's prioritized biomarkers of vitamin B12 in young populations: a systematic review.维生素 B12 摄入量与 EURRECA 优先推荐的青年人群维生素 B12 生物标志物之间的关联：系统评价。
Public Health Nutr. 2013 Oct;16(10):1843-60. doi: 10.1017/S1368980012003953. Epub 2012 Sep 13.
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Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).新生儿甲基丙二酸血症阳性筛查发现了细胞摄取与转钴胺素结合的维生素 B(12)的基因 TCblR/CD320 的第一个突变。
Hum Mutat. 2010 Aug;31(8):924-9. doi: 10.1002/humu.21297.
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