182 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
#Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
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
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Peripheral Blood Smear Analysis
Hypochromia
Megaloblastic Anemia
Schistocytes: Microangiopathic hemolytic anemia (e.g. DIC, TTP, HUS)
Microspherocytes: Autoimmune hemolytic anemia
Sickled red
disease Bite cells: G6PD
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... Sulfamethoxazole - Genetic
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic
Algorithmic Approach to Anemia - Differential Diagnosis Framework by MCV

Microcytic (MCV < 80) "TAILS":
 • Thalassemia
Spherocytosis, G6PD
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
#Table #NICU #Genetics