156 results
diagnosis differential causes algorithm pathophysiology management cardiology clinical pharmacology peds pediatrics table endocrinology cardiomyopathy treatment hematology nejm signs syndrome hepatology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD ... pathophysiology #genetics
Harlequin Ichthyosis Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
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 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
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Pathophys #Peds #Genetics
Primary and Secondary Causes of Cardiomyopathy (a) Primary cardiomyopathies - Genetic - Mixed (genetic/acquired)
cardiomyopathies - Genetic ... - Mixed (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
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
#Table #NICU #Genetics
Melanoma Pathogenesis Environmental exposure (UV light) + genetic susceptibility (CDKN2A, CDK4, MC1R, BRAF, p16/ARF genes) → accumulation
exposure (UV light) + genetic ... accumulation of genetic
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