5 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... metabolism, excluding complex ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
of lab values compiled ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
BRUE (Brief Resolved Unexplained Event) Algorithm

ALTE (Apparent Life Threatening Event) is out, replaced with a new
Unexplained Event) Algorithm ... ALTE (Apparent ... definition and classification ... Management #Peds #Pedatrics ... #ALTE
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
, vomiting • Late ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... polymorphisms alter ... adhesion of IgA complexes ... Formation of immune complexes ... HenochScholeinPurpura #Pathophysiology