3 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
additions, for diagnosing ... 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
inborn errors of metabolism ... #Genetics #Pathophysiology ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics