2 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... IEM #Laboratory #Patterns
Hamartomatous Polyposis Syndromes - Peutz-Jeghers Syndrome (PJS), Juvenile Polyposis Syndrome (JPS), Cowden Syndrome (CS), Cronkhite-Canada (CC),
throughout GI Tract - Genetic ... polyps → Arborizing pattern ... Mutation in SMAD4 (aka ... - Esophagus: Diffuse ... Syndromes #diagnosis #management