Associated Papers
Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type.
Mondesert E et al.
Heliyon, 2025
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Wu SN et al.
World Journal of Pediatrics : Wjp, 2024
38070096 (PubMed )
Supplement: 12519_2023_770_MOESM2_ESM.pdf
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
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
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.
Grandone E et al.
Bmc Pregnancy and Childbirth, 2019
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome.
Ardissino G et al.
Case Reports in Pediatrics, 2017
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP et al.
Human Mutation, 2009
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP et al.
Nature Genetics, 2006
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