41 results
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Damage #Pathophys #Peds ... #Genetics #Honc ... #Favism #g6pd #NEJM
#Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
#Pathophys #Peds ... #Genetics #Honc ... #Favism #g6pd #NEJM
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
do not occur in utero ... pathophysiology #genetics ... endocrinology #peds
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Associated Genetic ... management #cardiology #peds
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
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... pathophysiology #peds
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Syndromic • Genetic ... Algorithm #Causes #Peds
Mortality after Fluid Bolus in African Children with Severe Infection - June 30, 2011 N Engl
NEJMoa1101549 #EBM #Peds ... Boluses #Africa #NEJM
Clinical Trial of Fluid Infusion Rates for Pediatric Diabetic Ketoacidosis - Kupperman et al. NEJM 2018

https://www.nejm.org/doi/full/10.1056/NEJMoa1716816
Study
NEJM 2018 https ... VisualAbstract #Peds ... Infusion #Rates #NEJM