39 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
Metabolism of plasma ... lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #metabolism #lipoproteins ... #genetics
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Damage #Pathophys #Peds ... #Genetics #Honc ... #Favism #g6pd #NEJM
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... diagnosis #management #cardiology ... #peds #pediatrics
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
autosomal recessive metabolic ... critical for the metabolism ... #clincial #peds ... calcifications #infant #NEJM ... #Wolmans #radiology
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis
 • Dilated Cardiomyopathy 
 • Hypertrophic Cardiomyopathy
Failure - Causes, Pathophysiology ... Infiltrative • Genetic ... HeartFailure #Causes #Pathophysiology ... Differential #Diagnosis #cardiology
Pathways Involved in Protein and Amino Acid Metabolism in Chronic Kidney Disease. The tricarboxylic acid (TCA)
and Amino Acid Metabolism ... reactions that can metabolize ... #Pathophysiology ... AminoAcidMetabolism #Pathways #NEJM
Etiologies of dilated cardiomyopathy. HF, heart failure; HFrEF, heart failure with reduced ejection fraction; HIV, human
- Genetic ... - Endocrine / metabolic ... differential #diagnosis #cardiology
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... #AorticValve #cardiology ... #peds #pediatrics