3 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
excluding complex storage ... the lab values table ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Neonatology #Peds
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
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Incr Skeletal fractures ... • Obesity -> Type ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics