4 results
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 ... HereditarySpherocytosis #NEJM
Vertebral Hydatidosis- Physical examination revealed impaired sensation in both legs and weak foot flexion. Laboratory tests
testing revealed cystic ... dogs and other pets ... Infection can cause ... cystic lesions ... radiology #MRI #NEJM