Associated Papers
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
Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder.
De Las Heras J et al.
Journal of Clinical Medicine, 2020
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
33551980 (PubMed )
Supplement: Table_1.XLSX › variants
Cobalamin D Deficiency Identified Through Newborn Screening.
Abu-El-Haija A et al.
Jimd Reports, 2019
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