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Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, which enables molecular diagnostics. Here, we report four cblC type cases, which were identified by the typical manifestations, and a new approach of next-generation sequencing platform in pediatrics for genetic diseases, further confirmed by Sanger sequencing of the whole MMACHC gene. The article will replenish the mutational information of related genes to the cblC type, which makes for detecting of cblC disease through the newborn screening.
Jun Wang, and
Erzhen Li, and
Liwen Wang, and
Zhilong Wang, and
Shenghai Yang, and
Qiao Zhou, and
Qian Chen
April 2001,
Neurology,
Jun Wang, and
Erzhen Li, and
Liwen Wang, and
Zhilong Wang, and
Shenghai Yang, and
Qiao Zhou, and
Qian Chen
August 2010,
Pediatric neurology,
Jun Wang, and
Erzhen Li, and
Liwen Wang, and
Zhilong Wang, and
Shenghai Yang, and
Qiao Zhou, and
Qian Chen
January 2006,
Nature genetics,
Jun Wang, and
Erzhen Li, and
Liwen Wang, and
Zhilong Wang, and
Shenghai Yang, and
Qiao Zhou, and
Qian Chen
October 2007,
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Jun Wang, and
Erzhen Li, and
Liwen Wang, and
Zhilong Wang, and
Shenghai Yang, and
Qiao Zhou, and
Qian Chen
August 1997,
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Jun Wang, and
Erzhen Li, and
Liwen Wang, and
Zhilong Wang, and
Shenghai Yang, and
Qiao Zhou, and
Qian Chen
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American journal of medical genetics. Part A,
Jun Wang, and
Erzhen Li, and
Liwen Wang, and
Zhilong Wang, and
Shenghai Yang, and
Qiao Zhou, and
Qian Chen
December 2009,
Molecular genetics and metabolism,
Jun Wang, and
Erzhen Li, and
Liwen Wang, and
Zhilong Wang, and
Shenghai Yang, and
Qiao Zhou, and
Qian Chen
December 2009,
Molecular genetics and metabolism,
Jun Wang, and
Erzhen Li, and
Liwen Wang, and
Zhilong Wang, and
Shenghai Yang, and
Qiao Zhou, and
Qian Chen
November 2009,
Human mutation,
Jun Wang, and
Erzhen Li, and
Liwen Wang, and
Zhilong Wang, and
Shenghai Yang, and
Qiao Zhou, and
Qian Chen
May 1994,
Prenatal diagnosis,
