پیوندهای مفید
آمار
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| تعداد شمارهها | 1,092 |
| تعداد مقالات | 10,022 |
| تعداد مشاهده مقاله | 27,182,378 |
| تعداد دریافت فایل اصل مقاله | 7,456,880 |
Selective Screening of Phenylketonuria, Tyrosinemia and Maple Syrup Urine Disease in Southern Iran | ||
| Iranian Journal of Medical Sciences | ||
| مقاله 10، دوره 27، شماره 3، بهمن 2002، صفحه 134-135 اصل مقاله (29.44 K) | ||
| نوع مقاله: Brief Report(s) | ||
| نویسندگان | ||
| J. Golbahar* ؛ Z. Honardar | ||
| چکیده | ||
| Inborn errors of amino-acids metabolism and other inherited Mendeliandisorders are common in the MiddleEast.The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques. The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (PKU), tyrosinemia, and maple syrup urine disease (MSUD) in Fars Province, South of Iran. Using a high performance liquid chromatography, 1044 patients with signs and symptoms suggestive of PKU, tyrosinemia and MSUD were investigated between 1996 and 2001, for the presence of the disorders. Of 1044 patients, 43 cases (4.1%) with PKU, 15 (1.4%) with tyrosinemia and 6 (0.6%) with MSUD were diagnosed. The incidence rates of PKU, tyrosinemia and MSUD were found to be 27.2, 9.4, and 4.7 per 100,000 births, respectively. The incidence rates of PKU, tyrosinemia and MSUD in our region is higher than the rates reported from Europe presumably because of the relatively higher rates of consanguinity. | ||
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آمار تعداد مشاهده مقاله: 1,030 تعداد دریافت فایل اصل مقاله: 520 |
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