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Iranian Journal of Neonatology، جلد ۶، شماره ۱، صفحات ۱۸-۲۲
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عنوان انگلیسی Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran
چکیده انگلیسی مقاله Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran Background: Phenylketonuria is an autosomal recessive disease. Early diagnosis is a important public health intervention to prevent neurological impairment .This study was designed to describe characteristics of phenylketonouria patients in Khorasan ,Northeast of Iran. Methods: We included all  patients suffering from PKU in khorasan until September 2013. We gathered the variables like diagnosis age , sib of parents, cause of asking physician and screening based diagnosis or clinical based diagnosis. We use descriptive statistics for analysis. Results: The mean age of diagnosis was 19 months .80% pku patients had a positive history of consanguineous marriage in their parents. Incidence of new cases that identified by screening in 2012-2013 was 57 per 1000000 live birth. 10% patients identified with screening in first week of birth. Conclusion: Nearly all of our patients (90%) had been diagnosed without screening in the first days of their life only due to clinical manifestations in the first year of their life . According to efficacy of early diagnosis and dietary treatment, enforcement of public health policy for screening is a critical public health preventive intervention.
کلیدواژه‌های انگلیسی مقاله Phenylketonuria, Epidemiology, Clinical, Khorasan
نویسندگان مقاله نگار مروت دار | negar morovatdar
health system research committee, treatment affaire of vice chancellor, mashhad university of medical science , mashhad , iran


شاپور بدیعی اول | shapour badiee aval
complementary medicine research center , facaulty of traditional medicine, mashhad university of medical sciences, mashhad , iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)

سید محمد رضا حسینی یزدی | seyed mohammad reza hosseini yazdi
special disease center, treatment affaire of vice chancellor , mashhad university of medical science , mashhad , iran


فرزانه نوروزی | farzaneh norouzi
department of information technology, treatment affaire of vice chancellor , mashhad university of medical science , mashhad , iran


طاهره مینا | tahereh mina
clinical psychologist , special disease center, treatment affaire of vice chancellor, mashhad university of medical science , mashhad , iran
نشانی اینترنتی http://ijn.mums.ac.ir/article_4151.html
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