270 results
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #lipoproteins #genetics
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis
 • Dilated Cardiomyopathy 
 • Hypertrophic Cardiomyopathy
Heart Failure - Causes ... , Pathophysiology ... • Other HFpEF Causes ... Infiltrative • Genetic ... #Pathophysiology
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Pathophys #Peds #Genetics
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Causes of Hypomagnesemia ... other EGFR ab • Genetics ... Magnesium #Low #Causes
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm
Herniation of one or more pelvic organs
Risk factors:
Causes of Pelvic ... Risk factors: genetics ... Diagnosis #Algorithm #Causes
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Triglycerides - Genetic ... Causes • Familial ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic