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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Glavni autori: Ling-yi Wen (Autor), Ying-kun Guo (Autor), Xiao-qing Shi (Autor)
Format: Knjiga
Izdano: BMC, 2020-05-01T00:00:00Z.
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