3 results
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
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
calcification of both adrenal ... confirmed the diagnosis ... and gut, which causes ... #clincial #peds ... #infant #NEJM #
Causes of Failure to Thrive - Differential Diagnosis Algorithm
Adequate Calorie Consumption
 - Increased Losses:
Causes of Failure ... - Differential Diagnosis ... Insufficiency (Cystic ... #Algorithm #Causes ... #Peds #Pediatrics