hamdy_soliman

hamdy_soliman

Assistant Professor - Assistant Professor

Faculty of science

Address: sohag Uni.- faculty of science- zoology department

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Publications Which contain the keyword: Phenylketonuria (PKU)

Phenylketonuria in Sohag: A Preliminary Study

2018-09-19 05:19:53 Keywords 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 ... Read more

detection of phenylketonuria in sohag children

2018-09-07 17:32:57 Keywords Newborn Screening., Neurological Impairment, Phenylalanine Hydroxylase, Egypt, Sohag Governorate, Inborn Errors of Metabolism (IEMs), Phenylketonuria (PKU),
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 ... Read more

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