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نویسندگان مقالات پربازدید :
ژنتیک
جزئیات رویداد
همایش ، رویداد ، ژورنال
اینستاگرام تی پی بین
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  • جزئیات بیشتر مقاله
    • تاریخ ارائه: 1392/07/24
    • تاریخ انتشار در تی پی بین: 1392/07/24
    • تعداد بازدید: 885
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    • شماره تماس دبیرخانه رویداد: -
     peroxisomes are responsible for a number of very important metabolic reactions, including synthesis of glycerol ethers, shortening very long chain fatty acids (vlcfas; c24:o and c26:o), and oxidation of the side chain of cholesterol needed for bile acid production. peroxisomal biogenesis disorders (pbds) are genetically and phenotypically related disorders that involve enzymatic activities of peroxisomes. they are rare mostly autosomal recessive diseases characterized by multi-systemic structural and functional abnormalities. a number of biochemical abnormalities have been described in pbd patients including decreased levels of plasmalogens, and increased levels of vlcfas and cholestanoic acid derivatives. more than 25 different entities have been diagnosed and reported in the last two decades. the most severe condition is the zellweger syndrome, a condition due to the absence of functional peroxisomes. affected patients are severely ill, and show multiple congenital anomalies and neurological aberrations. chondrodysplasia punctata is another example; they are genetically heterogeneous group of dysplasias having stippling of the epiphyses in infancy as a common feature. peroxisomal abnormalities only found in the rhizomelic type i. there are specific biochemical tests for evaluating peroxisomal functions. the diagnoses on suspected cases can now be confirmed precisely by detailed biochemical evaluation and molecular analysis in some metabolic centers. accumulation  of certain vlcfas (c24:0, and c26:0); deficiency of plasmalogens, and elevation of phytanic acid are some of them. herein we report 10 iranian families with 15 affected cases of zellweger syndrome and rhizomelic type i chondrodysplasia punctata (rcdp i).

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