The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran

Authors :: Moradi, Keyvan
Alibakhshi, Reza
Khatami, Shohreh
Source :: Indian Journal of Human Genetics. Oct-Dec, 2013, Vol. 19 Issue 4, 454
Publication Year :: 2013
Abstract: Byline: Keyvan. Moradi, Reza. Alibakhshi, Shohreh. Khatami Background: Defects either in phenylalanine hydroxylase (PheOH) or in the production and recycling of its cofactor (tetrahydrobiopterin [BH4]) are the causes of primary [...]

Subjects :: Gene mutations -- Health aspects
Hydrolases -- Genetic aspects -- Health aspects
Phenylketonuria -- Genetic aspects
Coenzymes -- Genetic aspects -- Health aspects
Phenylalanine -- Genetic aspects -- Health aspects
Enzymes -- Genetic aspects -- Health aspects
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