Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

BACKGROUND: Cobalamin 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...

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Detalles Bibliográficos
Autores principales: De Simone, Luciano, Capirchio, Laura, Roperto, Rosa Maria, Romagnani, Paola, Sacchini, Michele, Donati, Maria Alice, de Martino, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205155/
https://www.ncbi.nlm.nih.gov/pubmed/30103768
http://dx.doi.org/10.1186/s13052-018-0530-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205155/
https://www.ncbi.nlm.nih.gov/pubmed/30103768
http://dx.doi.org/10.1186/s13052-018-0530-9

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