2005 results
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Role of G6PD in ... Pathophys #Peds #Genetics ... #Honc #Favism #g6pd
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
Algorithmic Approach to Anemia - Differential Diagnosis Framework by MCV

Microcytic (MCV < 80) "TAILS":
 • Thalassemia
Algorithmic Approach ... Spherocytosis, G6PD ... #Anemia #MCV #Algorithm
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #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
Hemolytic Anemia - Differential Diagnosis Algorithm
Hereditary:
 • Peripheral blood smear + DAT + further History
 •
Differential Diagnosis Algorithm ... bodies, DAT (-) → G6PD ... Differential #Diagnosis #Algorithm
#Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Pathophys #Peds #Genetics ... #Honc #Favism #g6pd
Causes of Extravascular and Intravascular Hemolysis - Differential Diagnosis Algorithm
Extravascular - Spleen and RES-mediated hemolysis
 -
Differential Diagnosis Algorithm ... Defects • G6PD ... Differential #Diagnosis #Algorithm
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
Diagnosis Workup Algorithm ... Adrenoleukodystrophy, genetic ... Diagnosis #Workup #Algorithm
Algorithm for selection of the young potential living kidney donor candidate. ∗APOL1 genetic testing is recommended
Algorithm for selection ... ∗APOL1 genetic testing ... Criteria #Evaluation #Algorithm