Articles with "aciduria homocystinemia" as a keyword



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

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Published in 2020 at "BMC Pediatrics"

DOI: 10.1186/s12887-020-02130-9

Abstract: Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B 12 metabolism with a wide spectrum of clinical manifestations. cblC presenting with pulmonary hypertension (PH) as leading sympotom is rare… read more here.

Keywords: hypertension late; pulmonary hypertension; methylmalonic aciduria; case ... See more keywords