162 results
diagnosis differential causes algorithm pathophysiology cardiology management clinical genetics pharmacology treatment cardiomyopathy peds pediatrics endocrinology signs table syndrome hematology hepatology
Ashkenazi Jewish Genetic Screening Algorithm • Bloom syndrome • Canavan disease • Familial dysautonomia • Fanconi
Ashkenazi Jewish Genetic ... anemia group C • Gaucher ... Ashkenazi #Jewish #Genetic
Gaucher Disease Pathophsiology • Lysosomal storage disorder • Deficiency of ß-glucocerebrosidase • Accumulation of glucosylceramide in macrophages Diagnosis
Gaucher Disease ... @YannNgyn #Gauchers
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
Lysosomal Storage Disorders Mucolipidoses • I-Cell Disease Mucopolysaccharidoses • Hurler • Hunter Sphingolipidoses • Tay Sachs • Fabry •
• Fabry • Gaucher
Abnormal Lipid Profiles - Differential Diagnosis Algorithm Increased Cholesterol and Triglycerides - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
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
Etiology of Splenic Infarction: • Hypercoagulability: Factor V Leiden, Antiphospholipid syndrome, Malignancy • Embolic disease: Atrial
neoplasm, Lymphoma, Gaucher
Some of the techniques used for Antenatal Diagnosis Amniocentesis - Chromosome/micro-array and DNA analysis -
Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic
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