39 results
diagnosis genetics clinical pathophysiology peds cardiology signs echocardiogram pediatrics psychiatry a4c algorithm differential metabolism nejm symptoms cardiac cardiomyopathy hematology honc
The following table from MacGregor (1997) summarizes the bioavailability of many commonly used antibiotics: #EBM #Pharmacology #InfectiousDiseases
Antibiotics #Absorption #Kinetics
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
Harlequin Ichthyosis Rare genetic disorder that results in thickened skin over nearly the entire surface of the
physicalexam #pediatrics #genetics
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 A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia Type I (FAMILIAL HYPERCHYLOMICRONEMIA) Type IIA
#lipoproteins #genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics
Autosomal Dominant Inheritance - Most common mode of Mendelian inheritance - Affected individual carries the
#Inheritance #Genetics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
pathophysiology #genetics
Duchenne Muscular Dystrophy (DMD) The term "Muscular dystrophy" refers to a group of inherited progressive muscle disorders.
Features #Signs #Genetics
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