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
Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.
Fernández-Lainez C et al.
Molecular Genetics and Metabolism Reports, 2024
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
Characterization of functional domains of the cblD (MMADHC) gene product.
Jusufi J et al.
Journal of Inherited Metabolic Disease, 2014
Gene identification for the cblD defect of vitamin B12 metabolism.
Coelho D et al.
The New England Journal of Medicine, 2008
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