763 results
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Damage #Pathophys #Peds ... #Genetics #Honc
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Associated Genetic ... management #cardiology #peds
#Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
#Pathophys #Peds ... #Genetics #Honc
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
#Neonatology #Peds ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Neonatology #Peds
PocketPEM - Inborn Errors of Metabolism #Diagnosis #Peds #EM #Genetics #Inborn #Errors #Metabolism #OTC #GAT1 #Aciduria
Metabolism #Diagnosis #Peds ... #EM #Genetics #
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Syndromic • Genetic ... Algorithm #Causes #Peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... pathophysiology #peds
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Syndrome is a rare genetic ... #PatientInfo #Peds
Age Distribution of Hypertension Etiologies
< 1 month
 - Renal arterial thrombosis
 - Congenital renal disease
 -
- Mendelian genetic ... age #pediatrics #peds