Associated Papers
Long-term outcome of CblC deficiency complicated with pulmonary hypertension.
Ding S et al.
Orphanet Journal of Rare Diseases, 2025
Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia.
Akar HT et al.
Bmc Nephrology, 2024
Concurrent Cobalamin C and Plasminogen Deficiencies in a Patient with Chronic Thrombotic Microangiopathy.
Dirim AB et al.
Nephron, 2024
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
Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review.
Karava V et al.
Children (basel, Switzerland), 2021
Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab.
Barlas UK et al.
Pediatric Nephrology (berlin, Germany), 2018
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.
Chen M et al.
Medicine, 2017
Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.
Adrovic A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.
Gündüz M et al.
European Journal of Pediatrics, 2014
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
Select a paper to view details