Associated Papers
Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection.
Rafat C et al.
Clinical Kidney Journal, 2023
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Wu C et al.
Brain : a Journal of Neurology, 2023
36380532 (PubMed )
Supplement: awac426_supplementary_data.pdf
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
A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge.
Ailliet S et al.
Biochemia Medica, 2022
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Kalantari S et al.
Orphanet Journal of Rare Diseases, 2022
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Pajares S et al.
Orphanet Journal of Rare Diseases, 2021
Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult.
Philipponnet C et al.
Bmc Nephrology, 2020
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.
Ahrens-Nicklas RC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.
Whitaker AM et al.
Applied Neuropsychology. Child, 0
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