Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders
نویسندگان
چکیده
منابع مشابه
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
PURPOSE To assess long-term effects of genotype on chorioretinopathy severity in patients with mitochondrial trifunctional protein (MTP) disorders. DESIGN Retrospective case series. PARTICIPANTS Consecutive patients with MTP disorders evaluated at a single center from 1994 through 2015, including 18 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and 3 patients ...
متن کامل[Mitochondrial trifunctional protein deficiency].
We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with longchain 3-hydroxyacyl-CoA dehydrogenase deficiency. The following results were obtained. (a) In cells from patient 1, immunoblot analysis and pulse-chase experimen...
متن کاملDisorders of mitochondrial protein synthesis.
Mitochondrial tRNA gene mutations, including heteroplasmic deletions that eliminate one or more tRNAs, as well as point mutations that may be either hetero- or homoplasmic, are associated with a wide spectrum of human diseases. These range from rare syndromic disorders to cases of commoner conditions such as sensorineural deafness or cardiomyopathy. The disease spectrum of mutations in a given ...
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UNLABELLED The course of hepatitis C virus (HCV) infection and disease progression involves alterations in lipid metabolism, leading to symptoms such as hypocholesterolemia and steatosis. Steatosis can be induced by multiple mechanisms, including increases in lipid biosynthesis and uptake, impaired lipoprotein secretion, and/or attenuation of lipid β-oxidation. However, little is known about th...
متن کاملCentral serous chorioretinopathy associated with rowatinex usage.
Central serous chorioretinopathy (CSC) is an idiopathic disorder characterized by serous detachment of the neurosensory retina. This report describes a case of CSC associated with rowatinex usage.
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ژورنال
عنوان ژورنال: Ophthalmology
سال: 2016
ISSN: 0161-6420
DOI: 10.1016/j.ophtha.2016.06.048