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
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
Plessl T et al.
Human Mutation, 2017
Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria.
Hubbard PA et al.
The Journal of Biological Chemistry, 2007
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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