Associated Papers
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
Demaret T et al.
Molecular Genetics and Metabolism, 2024
Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection.
Rafat C et al.
Clinical Kidney Journal, 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
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Kalantari S et al.
Orphanet Journal of Rare Diseases, 2022
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
He R et al.
Orphanet Journal of Rare Diseases, 2020
Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
Wei Y et al.
Journal of Neurology, 2019
Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases.
Wang X et al.
Orphanet Journal of Rare Diseases, 2019
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.
Navarro D et al.
Cen Case Reports, 2018
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Beck BB et al.
Pediatric Nephrology (berlin, Germany), 2017
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.
Liu J et al.
Orphanet Journal of Rare Diseases, 2017
Molecular picture of cobalamin C/D defects before and after newborn screening era.
Nogueira C et al.
Journal of Medical Screening, 2017
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Huemer M et al.
Orphanet Journal of Rare Diseases, 2014
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.
Jorge-Finnigan A et al.
Biochimica Et Biophysica Acta, 2010
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
Richard E et al.
Human Mutation, 2009
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP et al.
Human Mutation, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
Thauvin-Robinet C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP et al.
Nature Genetics, 2006
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