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