ArticleItalian journal of pediatrics2018
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.
Article in Italian journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Addressing micronutrient deficiencies and vitamin metabolism disorders in pediatric pulmonary hypertension: a strategic proposal for low- and middle-income countries.Frontiers in cardiovascular medicine · 2026Review
- Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension.Orphanet journal of rare diseases · 2025Article
- Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect.Frontiers in cardiovascular medicine · 2025Article
- Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.World journal of pediatrics : WJP · 2024Article
- Acute Lymphoblastic Leukemia in Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type): A Case Report and Literature Review.Frontiers in genetics · 2022Article
- Different Pattern of Cardiovascular Impairment in Methylmalonic Acidaemia Subtypes.Frontiers in pediatrics · 2022Article
- Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.Indian journal of pediatrics · 2021Article
- Adult-onset hypoxaemia, diffuse lung lesions, and pulmonary hypertension in cobalamin C defect: a case report.European heart journal. Case reports · 2021Article
- Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.BMC medical genetics · 2020Article
- Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report.World journal of clinical cases · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare. CASE PRESENTATION: We describe the case of a 2-years old child, previously in good health, admitted to the hospital with severe respiratory symptoms, rapid worsening of clinical conditions, O
conclusionsIn this case of cblC defect the metabolic treatment completely reverted symptoms of aHUS and PAH. The course was favorable, and the prognosis is what we foresee for the future.
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Registered trials
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