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
First report of homocystinuria-megaloblastic anaemia, cobalamin E complementation type, in an Indian child.
Jamwal M et al.
Pathology, 2019
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Brasil S et al.
Orphanet Journal of Rare Diseases, 2018
Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.
Ruiz-Mercado M et al.
Hematology (amsterdam, Netherlands), 2016
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.
Martínez-Pizarro A et al.
Plos One, 2016
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
Huemer M et al.
Journal of Inherited Metabolic Disease, 2015
Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.
Richard E et al.
Journal of Cellular Biochemistry, 2013
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
Zavadáková P et al.
Human Mutation, 2005
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.
Vilaseca MA et al.
Journal of Inherited Metabolic Disease, 2003
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