Articles with "combined methylmalonic" as a keyword



Photo from wikipedia

Diffuse alveolar hemorrhage in a boy with combined methylmalonic acidemia and homocysteinemia

Sign Up to like & get
recommendations!
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… read more here.

Keywords: alveolar hemorrhage; combined methylmalonic; boy; hemorrhage ... See more keywords