6 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Tetralogy #Fallot #diagnosis ... #management #cardiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
mutation in CYP21A2 coding ... in the adrenal glands ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Genetic predisposition ... Management during ... Management during ... Delivery • Stable ... Management during
Hamartomatous Polyposis Syndromes - Peutz-Jeghers Syndrome (PJS), Juvenile Polyposis Syndrome (JPS), Cowden Syndrome (CS), Cronkhite-Canada (CC),
throughout GI Tract - Genetic ... cystically dilated glands ... colon → Likely risk ... Polyposis #Syndromes #diagnosis ... #management #gastroenterology