Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening

Author:

Han Lianshu1,Wu Shengnan12,Ye Jun1,Qiu Wenjuan1,Zhang Huiwen1,Gao Xiaolan1,Wang Yu1,Gong Zhuwen1,Jin Jing1,Gu Xuefan1

Affiliation:

1. Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research; Shanghai Jiaotong University School of Medicine; Shanghai China

2. Department of Pediatric Endocrinology and Genetic Metabolism; Zhengzhou Children's Hospital; Henan China

Funder

Major Program of Shanghai Committee of Science and Technology

National Key Technology R&D Program

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Combined methylmalonicacidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management;Carrillo-Carrasco;J Inherit Metab Dis,2012

2. Novel mutations in a Thai patient with methylmalonicacidemia;Champattanachai;Mol Genet Metab,2003

3. Mitochondrial dysfunction in mut methylmalonic acidemia;Chandler;FASEB J,2009

4. Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia;Crane;Am J Hum Genet,1994

5. Methylmalonic and propionic aciduria;Deodato;Am J Med Genet Part C,2006

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