1353 results
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
to an enlarged clitoris ... difficulties • Enlarged clitoris ... pathophysiology #genetics
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
- Differential Diagnosis ... Algorithm Increased ... Triglycerides - Genetic ... #Differential #Diagnosis ... #Algorithm #Causes
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... Laboratory #Patterns #diagnosis
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
- Differential Diagnosis ... Workup Algorithm ... Adrenoleukodystrophy, genetic ... #Differential #Diagnosis ... #Workup #Algorithm
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Algorithm #Differential
Diagnostic Algorithms for Microcytic, Normocytic and Macrocytic Anemia

#Microcytic #Normocytic #Macrocytic #Anemia #Algorithm #Comparison #Diagnosis
Diagnostic Algorithms ... Macrocytic #Anemia #Algorithm ... #Comparison #Diagnosis
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
- Differential Diagnosis ... Algorithm GI LOSS ... other EGFR ab • Genetics ... #Differential #Diagnosis ... #Algorithm
Algorithm for selection of the young potential living kidney donor candidate. ∗APOL1 genetic testing is recommended
Algorithm for selection ... ∗APOL1 genetic testing ... #Diagnosis #Nephrology ... Criteria #Evaluation #Algorithm
CHF - Left-Sided Heart Failure - Differential Diagnosis Algorithm

Valvular Disease (Preserved Diastolic/Systolic Function)
 • Mitral Stenosis
- Differential Diagnosis ... Algorithm Valvular ... , cocaine) • Genetic ... #Differential #Diagnosis ... #Algorithm #causes
Hypocalcemia Workup - Differential Diagnosis Algorithm
 • Low Magnesium, High Magnesium - Functional Hypoparathyroidism
 • High
- Differential Diagnosis ... Algorithm • Low ... Hypoparathyroidism: Autoimmune, Genetic ... #Differential #Diagnosis ... #Algorithm #nephrology