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Journal of Research in Medical Sciences، جلد ۱۸، شماره ۹، صفحات ۸۰۱-۰
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عنوان انگلیسی Newborn Screening for inherited metabolic disorders; news and views
چکیده انگلیسی مقاله Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. This comprehensive system includes; testing, education, follow up, diagnosis, treatment, management, and evaluation. There are major differences among many of the disorders being considered for inclusion in newborn screening programs. In recent times, advances in laboratory technology such as tandem mass spectrometry (MS/MS), which is more specific, sensitive, reliable, and comprehensive than traditional assays, has increased the number of genetic conditions that can be diagnosed through neonatal screening programs at birth. With a single dried filter paper blood spot, MS/MS can identify more than 30 inherited metabolic disorders in around two to three minutes. Advances in the diagnosis and treatment and an increased understanding of the natural history of inborn errors of metabolism have produced pressure to implement expanded newborn screening programs in many countries. Even as many countries throughout the world have made newborn screening mandatory, in Iran, nationwide newborn screening for inherited metabolic disorders other than hypothyroidism has not been initiated, hence, there is little information about these diseases. This article aims to review the recent advances in newborn metabolic screening and its situation in Iran and other countries.
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نویسندگان مقاله مرتضی پورفرزام | morteza pourfarzam
department of clinical biochemistry, school of pharmacy and pharmaceutical sciences, isfahan university of medical sciences, isfahan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)

فوزیه زادهوش | fouzieh zadhoush
department of clinical biochemistry, school of pharmacy and pharmaceutical sciences, isfahan university of medical sciences, isfahan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)

نشانی اینترنتی http://jrms.mui.ac.ir/index.php/jrms/article/view/9477
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Review Articles
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