Associated Papers
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
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
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
Zavadáková P et al.
Human Mutation, 2005
Kinetic and thermodynamic characterization of the common polymorphic variants of human methionine synthase reductase.
Olteanu H et al.
Biochemistry, 2004
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.
Zavadakova P et al.
Journal of Inherited Metabolic Disease, 2002
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.
Wilson A et al.
Human Molecular Genetics, 1999
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