7 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... IEM #Laboratory #Patterns
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Oxidative Damage #Pathophys ... #Peds #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
#Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
#Pathophys #Peds ... #Genetics #Honc
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
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
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Bulimia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: Some
Gender: F > M • Genetics ... disordered feeding patterns ... obsessive thinking patterns ... BulimiaNervosa #pathophysiology