PND122 - HEALTH STATE UTILITIES ASSOCIATED WITH FAMILIAL CHYLOMICRONEMIA SYNDROME (FCS), A RARE GENETIC DISORDER
نویسندگان
چکیده
منابع مشابه
Health state utilities associated with adult attention-deficit/hyperactivity disorder
OBJECTIVES With growing awareness of the importance of adult attention-deficit/hyperactivity disorder (ADHD) treatment, cost-effectiveness analyses, including utilities, are needed to compare the value of treatment options. Although utilities have been reported for childhood ADHD, little is known about utilities representing adult ADHD. Therefore, the purpose of this study was to estimate utili...
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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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Crouzon's syndrome, also known as brachial arch syndrome, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the b...
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There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. The authors report a neonate affected by familial hyperchylomicronemia, While being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. Based on this very abnormal lipid profile...
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ژورنال
عنوان ژورنال: Value in Health
سال: 2018
ISSN: 1098-3015
DOI: 10.1016/j.jval.2018.09.2087