1990 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Differential Diagnosis Algorithm ... Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Differential #Diagnosis #Algorithm
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #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 ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
Diagnosis Workup Algorithm ... Adrenoleukodystrophy, genetic ... Diagnosis #Workup #Algorithm
#Diagnosis #CausticInjury #Ingestion #Endoscopic #GradingSystem
ENDOSCOPIC GRADING SYSTEM FOR CAUSTIC INJURIES.
Ingestion #Endoscopic #GradingSystem
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Differential Diagnosis Algorithm ... other EGFR ab • Genetics ... Differential #Diagnosis #Algorithm
Hypocalcemia Workup - Differential Diagnosis Algorithm
 • Low Magnesium, High Magnesium - Functional Hypoparathyroidism
 • High
Differential Diagnosis Algorithm ... Hypoparathyroidism: Autoimmune, Genetic ... Differential #Diagnosis #Algorithm
CHF - Left-Sided Heart Failure - Differential Diagnosis Algorithm

Valvular Disease (Preserved Diastolic/Systolic Function)
 • Mitral Stenosis
Differential Diagnosis Algorithm ... , cocaine) • Genetic ... Differential #Diagnosis #Algorithm