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

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

Abstract 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 presentat...

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Bibliographic Details
Main Authors: Luciano De Simone, Laura Capirchio, Rosa Maria Roperto, Paola Romagnani, Michele Sacchini, Maria Alice Donati, Maurizio de Martino
Format: Article
Language:English
Published: BMC 2018-08-01
Series:Italian Journal of Pediatrics
Subjects:
Pulmonary hypertension
Atypical hemolytic-uremic syndrome
aHUS
Cobalamin C
Online Access:http://link.springer.com/article/10.1186/s13052-018-0530-9

Internet

http://link.springer.com/article/10.1186/s13052-018-0530-9

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