Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Cobalt-Sulfur Coordination Chemistry Drives B12 Loading onto Methionine Synthase.
Mascarenhas R et al.
Journal of the American Chemical Society, 2023
Cobalt-sulfur coordination chemistry drives B 12 loading onto methionine synthase.
Mascarenhas R et al.
Biorxiv : the Preprint Server for Biology, 2023
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
Yamada K et al.
The Journal of Biological Chemistry, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Characterization of functional domains of the cblD (MMADHC) gene product.
Jusufi J et al.
Journal of Inherited Metabolic Disease, 2014
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.
Atkinson C et al.
Jimd Reports, 2014
Gene identification for the cblD defect of vitamin B12 metabolism.
Coelho D et al.
The New England Journal of Medicine, 2008
Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.
Pinales BE et al.
Differentiation; Research in Biological Diversity, 0
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