Genetic and clinical characteristics of patients with phenylketonuria in Slovenia
<p>Phenylketonuria (PKU), an autosomal recessive disease, is the most common inborn error of amino acid metabolism in Caucasians, affecting 1/10,000 individuals. PKU is caused by the deficiency of hepatic phenylalanine hydroxylase (PAH), which catalyzes the hydroxylation of phenylalanine (Phe)...
Main Authors: | Urh Grošelj, Mojca Žerjav Tanšek, Katarina Trebušak Podkrajšek, Tadej Battelino |
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Format: | Article |
Language: | English |
Published: |
Slovenian Medical Association
2013-12-01
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Series: | Zdravniški Vestnik |
Subjects: | |
Online Access: | http://vestnik.szd.si/index.php/ZdravVest/article/view/993 |
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