Associated Papers
Identification of a novel CABP4 frameshift variant and a secondary USH2A missense variant in congenital cone-rod synaptic disorder.
Mousawi Z et al.
Ophthalmic Genetics, 2026
Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.
Olivieri G et al.
Journal of Inherited Metabolic Disease, 2025
Abnormal chondrocyte intercalation in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.
Paz D et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.
Wiedemann A et al.
Cell Reports. Medicine, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Reappraising newborn screening for cobalamin C disorder.
Tocan V et al.
Pediatrics and Neonatology, 2018
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.
Ahrens-Nicklas RC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].
Pan YC et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
Brooks BP et al.
Ophthalmology, 2016
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Scolamiero E et al.
Molecular Biosystems, 2015
[A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)].
Yamamoto M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2015
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.
Froese DS et al.
Molecular Genetics and Metabolism, 2010
Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
Froese DS et al.
Molecular Genetics and Metabolism, 2009
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP et al.
Human Mutation, 2009
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Morel CF et al.
Molecular Genetics and Metabolism, 2006
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP et al.
Nature Genetics, 2006
Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.
Paz D et al.
Differentiation; Research in Biological Diversity, 0
Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.
Pinales BE et al.
Differentiation; Research in Biological Diversity, 0