Associated Papers
Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.
Olivieri G et al.
Journal of Inherited Metabolic Disease, 2025
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
35764087 (PubMed )
Supplement: mmc1.pdf
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
Brooks BP et al.
Ophthalmology, 2016
Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.
Menni F et al.
Pediatric Nephrology (berlin, Germany), 2012
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
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Morel CF et al.
Molecular Genetics and Metabolism, 2006
[Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria].
Rogé Canales M et al.
Anales Espanoles De Pediatria, 1996
[Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis].
Chenel C et al.
Archives Francaises De Pediatrie, 1993
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
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