156 results
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
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Pathophys #Peds #Genetics
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
#Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics
Autosomal Dominant Inheritance
 - Most common mode of Mendelian inheritance 
 - Affected individual carries the
#Inheritance #Genetics
#Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Pathophys #Peds #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics
Genetics and Inheritance of the ABO System
The inheritance pattern of the ABO blood group exhibits codominance.
3
Genetics and Inheritance ... #ABO #System #Genetics
PocketPEM - Inborn Errors of Metabolism #Diagnosis #Peds #EM #Genetics #Inborn #Errors #Metabolism #OTC #GAT1 #Aciduria
Diagnosis #Peds #EM #Genetics