Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases.
暂无分享,去创建一个
A. Torrents | E. Durán | E. Geán | B. Oliver Tormo | E. García | E. Cancho García | B. Oliver Tormo | E. Esteban Durán
[1] R. Banerjee,et al. Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases* , 2015, The Journal of Biological Chemistry.
[2] M. Baumgartner,et al. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines , 2015, Journal of Inherited Metabolic Disease.
[3] R. Banerjee,et al. The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning. , 2013, Biochimie.
[4] I. Miousse,et al. Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. , 2014, JIMD reports.
[5] B. Merinero,et al. Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect. , 2013, JIMD reports.