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adrenal cftr clincial cysticfibrosis hemolysis hereditaryspherocytosis honc infant modulatortherapy pathophys pharm pulm radiology spherocytosis wolmans xray
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
abdomen revealed calcification ... A homozygous mutation ... and gut, which causes ... #clincial #peds ... #infant #NEJM #
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Classes of Mutations ... Gene Encoding Cystic ... trafficking defect caused ... Pathophys #Pulm #Peds ... ModulatorTherapy #NEJM
Hemolysis in Hereditary Spherocytosis. Panel A shows the structure of a normal red cell and a
Gene mutations of ... deficiencies that cause ... #Pathophysiology ... #Honc #IM #Spherocytosis ... HereditarySpherocytosis #NEJM
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