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Published in 2020 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24940
Abstract: To the Editor, Type cblC caused by the MMACHC gene is the most common subtype of combined methylmalonic academia (MMA) and homocystienemia (HC). Patients with MMACHC mutations develop various clinical manifestations. Here we describe one…
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Keywords:
alveolar hemorrhage;
combined methylmalonic;
boy;
hemorrhage ... See more keywords