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
Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.
Yin Z et al.
European Journal of Medical Research, 2024
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
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Şeker Yılmaz B et al.
Turkish Journal of Medical Sciences, 2021
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
Plessl T et al.
Human Mutation, 2017
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
Dempsey-Nunez L et al.
Molecular Genetics and Metabolism, 2012
Neurocognitive phenotype of isolated methylmalonic acidemia.
O'Shea CJ et al.
Pediatrics, 2012
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Lerner-Ellis JP et al.
Human Mutation, 2004
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