论文信息 - Reappraising newborn screening for cobalamin C disorder. - 字舞流文

Reappraising newborn screening for cobalamin C disorder.

H. Takada | S. Ohga | S. Hirose | O. Sakamoto | M. Ishimura | Naoko Toda | Vlad Tocan | K. Nishiyama | K. Ohkubo | K. Yoshimura | Fusako Sasaki | Kanako Higashi | Kanako Kojima‐Ishii

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[2] M. Baumgartner,et al. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines , 2015, Journal of Inherited Metabolic Disease.

[3] M. Baumgartner,et al. Clinical presentation and outcome in a series of 88 patients with the cblC defect , 2014, Journal of Inherited Metabolic Disease.

[4] C. Venditti,et al. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes , 2012, Journal of Inherited Metabolic Disease.

[5] D. Martinelli,et al. Cobalamin C defect: natural history, pathophysiology, and treatment , 2011, Journal of Inherited Metabolic Disease.

[6] E. Shoubridge,et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type , 2006, Nature Genetics.