Clinical and Biochemical Features of Different Molecular Etiologies of Familial Chylomicronemia
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چکیده
منابع مشابه
Presentation of Hypoparathyroidism: Etiologies and Clinical Features.
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15 صفحه اولTwo Case Reports of Familial Chylomicronemia Syndrome
Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.
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a simple, rapid and low-cost scanner spectroscopy method for the glucose determination by utilizing glucose oxidase and cdte/tga quantum dots as chromoionophore has been described. the detection was based on the combination of the glucose enzymatic reaction and the quenching effect of h2o2 on the cdte quantum dots (qds) photoluminescence.in this study glucose was determined by utilizing glucose...
Molecular Diagnosis of Familial Hypercholesterolemia
Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...
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ژورنال
عنوان ژورنال: Journal of Clinical Lipidology
سال: 2017
ISSN: 1933-2874
DOI: 10.1016/j.jacl.2017.04.098