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) to ty...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Urh Grošelj, Mojca Žerjav Tanšek, Katarina Trebušak Podkrajšek, Tadej Battelino
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Slovenian Medical Association 2013-12-01
Цуврал:	Zdravniški Vestnik
Нөхцлүүд:	phenylketonuria genotype phenotype the PKU incidence Slovenia
Онлайн хандалт:	http://vestnik.szd.si/index.php/ZdravVest/article/view/993
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!