8 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... 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
of information: Pediatrics ... , UpToDate #Pediatrics ... #Neonatology #Peds ... #Pediatrics #Table ... #IEM #NICU #InbornErrors
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... diagnosis #management #cardiology ... #peds #pediatrics
Algorithm for the Evaluation and Management of Suspected Congenital Heart Disease in Neonates

Neonates with undiagnosed congenital
Management of Suspected Congenital ... with undiagnosed congenital ... with nonspecific symptoms ... Neonates #Neonatal #Peds ... #Pediatrics #Cardiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... 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
also known as "congenital ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Childhood Immunization Schedule: Why we immunize
 • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
hemorrhagic rash; symptoms ... organ ischemia -> Congenital ... non-specific viral symptoms ... #Immunization #peds ... #pediatrics #pathophysiology
Fontan Procedure Schematic
A Fontan is done in most children (approximately 90%) who effectively have a single
valvular atresia or a congenital ... Schematic #Diagram #congenital ... #Cardiology #Peds ... #Pediatrics #Pathophysiology