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: | , , , |
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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 |