5 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... InbornErrors #Metabolism #Neonatology ... #Peds #Pediatrics ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
A schema of the ... MetabolicEmergency #Genetics ... #Differential #Neonatology ... #Peds #Pediatrics ... #Table #IEM #NICU
Infant of a Diabetic Mother - complications - pathophysiology learning schema
Information source: UpToDate

#Infant #Diabetic #Mother #Pediatrics
complications - pathophysiology ... learning schema ... Diabetic #Mother #Pediatrics ... #Neonatology #IDM ... Complications #Peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics