Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness
E Polak, A Ficek, J Radvanszky, A Soltysova, O Urge… - Gene, 2013 - Elsevier
We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a
cohort of patients from 135 Slovak PKU families. Mutational screening of the known coding …
cohort of patients from 135 Slovak PKU families. Mutational screening of the known coding …
[PDF][PDF] Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness
M Bik-Multanowski, L Kaluzny… - Acta Biochimica …, 2013 - frontierspartnerships.org
Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with
phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very …
phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very …
[HTML][HTML] Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria
V Pampukha, M Nechyporenko, L Livshyts - Genes & diseases, 2017 - Elsevier
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by deficiency
of phenylalanine hydroxylase (PAH). The major molecular defects causing PKU are …
of phenylalanine hydroxylase (PAH). The major molecular defects causing PKU are …
[PDF][PDF] Comparative Analysis of Phenylalanine Hydroxylase Mutations Spectrum in Novosibirsk and Kemerovo regions of Western Siberia, Russia
OA Baturina, IV Morozov - Eur J Medicine, 2016 - scholar.archive.org
Results of phenylalanine hydroxylase (PAH) locus molecular genotyping for 115
phenylketonuria (PKU) patients and their family members from Novosibirsk and Kemerovo …
phenylketonuria (PKU) patients and their family members from Novosibirsk and Kemerovo …
Спектр и частота встречаемости мутаций в гене РАН у больных фенилкетонурией Ростовской области
МА Амелина, АА Степанова, АВ Поляков… - Медицинская …, 2015 - elibrary.ru
В рамках генетико-эпидемиологического исследования населения Ростовской области
(РО) определены спектр и частоты мутаций в гене РАН у больных фенилкетонурией …
(РО) определены спектр и частоты мутаций в гене РАН у больных фенилкетонурией …
[PDF][PDF] Молекулярно-генетическое типирование больных с фенилкетонурией в Ростовской области
АВ ПОЛЯКОВ, РА ЗИНЧЕНКО - Медицинская генетика, 2004 - dnalab.ru
Проведен анализ наиболее часто встречающихся мутаций (R408W, P281L,
IVS10nt546, R261Q, IVS12ntl, R158Q, R252W, I65T) в гене фермента …
IVS10nt546, R261Q, IVS12ntl, R158Q, R252W, I65T) в гене фермента …
Screening for mutant variants of exons 5, 7, and 12 in the phenylalanine hydroxylase gene with the use of denaturing gradient gel-electrophoresis
OO Soloviov, LA Livshits - Cytology and genetics, 2009 - Springer
The assays were developed for the analysis of the most frequent in Ukraine PAH gene
mutations (R158Q, R408W, Y414C, P281L, R252W, and R261Q) in PKU patients and in …
mutations (R158Q, R408W, Y414C, P281L, R252W, and R261Q) in PKU patients and in …