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
Late-onset cobalamin C disease presenting with acute cerebellar ataxia.
Wei Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
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
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type.
Backe PH et al.
Jimd Reports, 2013
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