naglaa_abdallah

Naglaa Youssef Abdallah

مدرس - Lecturer

كلية العلوم

العنوان: جامعه سوهاج - كليه العلوم- قسم النبات والميكروبيولوجى

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إعجاب

المنشورات و المؤلفات التي تحتوي علي الكلمة المفتاحية: Phenylketonuria (PKU)


2018-09-19 05:19:53 الكلمات المفتاحية Phenylketonuria (PKU), Inborn,
Phenylketonuria in Sohag: A Preliminary Study
Phenylketonuria (PKU) is one of the commonest inborn error of metabolism, it is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. The diagnosis of this disorder can be confirmed by analysis of urine components. The present study aimed to assess the prevalence of PKU among ... إقراء المزيد

detection of phenylketonuria in sohag children
Phenylketonuria (PKU) is one of the commonest inborn error of metabolism, it is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. The diagnosis of this disorder can be confirmed by analysis of urine components. The present study aimed to assess the prevalence of PKU among ... إقراء المزيد

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