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...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-05-01
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Series: | BMC Pediatrics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12887-020-02130-9 |