Associated Papers
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
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Kalantari S et al.
Orphanet Journal of Rare Diseases, 2022
Successful intrauterine treatment of a patient with cobalamin C defect.
Trefz FK et al.
Molecular Genetics and Metabolism Reports, 2016
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
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Liu MY et al.
Journal of Human Genetics, 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
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
Select a paper to view details