4 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table ... #IEM #NICU #InbornErrors
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
-55; f 50-60y (hormonal ... survival is 93-95% Pathophysiology ... Pulmonary: dyspnea ... nodules; anterior/posterior ... Diagnosis #Management #Signs