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
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
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution.
Torices L et al.
Molecular Genetics and Metabolism Reports, 2021
An Interprotein Co-S Coordination Complex in the B12-Trafficking Pathway.
Li Z et al.
Journal of the American Chemical Society, 2020
Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder.
De Las Heras J et al.
Journal of Clinical Medicine, 2020
Characterization of functional domains of the cblD (MMADHC) gene product.
Jusufi J et al.
Journal of Inherited Metabolic Disease, 2014
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
Gherasim C et al.
Biochimie, 2013
Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.
Deme JC et al.
Molecular Genetics and Metabolism, 2012
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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