Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report

Abstract Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations. cblC presenting with pulmonary hypertension (PH) as leading sympotom is rare and easily misdiagnosed because of limited...

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Bibliographic Details
Main Authors: Ling-yi Wen, Ying-kun Guo, Xiao-qing Shi
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Pediatrics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12887-020-02130-9