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
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
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
A Glance into MTHFR Deficiency at a Molecular Level.
Savojardo C et al.
International Journal of Molecular Sciences, 2021
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
Marelli C et al.
Journal of Inherited Metabolic Disease, 2021
[Remethylation disorders: about two cases].
Brailova M et al.
Annales De Biologie Clinique, 2020
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.
De Biase I et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
An infant and mother with severe B12 deficiency: vitamin B12 status assessment should be determined in pregnant women with anaemia.
Sobczyńska-Malefora A et al.
European Journal of Clinical Nutrition, 2017
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
Burda P et al.
Journal of Inherited Metabolic Disease, 2017
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Froese DS et al.
Human Mutation, 2016
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M et al.
Journal of Inherited Metabolic Disease, 2016
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Burda P et al.
Human Mutation, 2015
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.
D'Aco KE et al.
Pediatric Neurology, 2014
Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.
Prasad AN et al.
Brain & Development, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
[Molecular genetics of MTHFR: polymorphisms are not all benign].
Leclerc D et al.
Medecine Sciences : M/s, 2007
The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.
Goyette P et al.
Human Mutation, 2000