22 results
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
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related ... genetic diseases ... hypercholesterolemia #pathophysiology ... #lipoproteins #genetics
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis
 • Dilated Cardiomyopathy 
 • Hypertrophic Cardiomyopathy
Failure - Causes, Pathophysiology ... Diagnosis • Dilated ... Infiltrative • Genetic ... HeartFailure #Causes #Pathophysiology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
microphallus & delayed ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm
Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
Causes of Dilated ... Differential Diagnosis Algorithm ... cardiomyopathy, Genetic ... arteritis #Dilated ... Differential #Diagnosis #Algorithm
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
#CAH #algorithm ... comparison #treatment #Peds ... Endocrinology #Adrenal #pathophysiology
CHF - Left-Sided Heart Failure - Differential Diagnosis Algorithm

Valvular Disease (Preserved Diastolic/Systolic Function)
 • Mitral Stenosis
Differential Diagnosis Algorithm ... Regurgitation Dilated ... , cocaine) • Genetic ... Differential #Diagnosis #Algorithm
Ashkenazi Jewish Genetic Screening Algorithm
 • Bloom syndrome
 • Canavan disease
 • Familial dysautonomia
 • Fanconi
Ashkenazi Jewish Genetic ... Screening Algorithm ... disease • ABCC8-related ... Ashkenazi #Jewish #Genetic ... #Screening #Algorithm