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
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
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
Gherasim C et al.
Biochimie, 2013
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
Miousse IR et al.
The Journal of Pediatrics, 2009
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