Results for fenilalanīnhidroksilāzes translation from Latvian to English

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fenilalanīnhidroksilāzes

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Latvian

kuvan ordinēšanas loģiskais pamatojums pacientiem ar bh4 deficītu ir aizvietot bh4 nepietiekošo līmeni, tādā veidā atjaunojot fenilalanīnhidroksilāzes aktivitāti.

English

the rationale for administration of kuvan in patients with bh4 deficiency is to replace the deficient levels of bh4, thereby restoring the activity of phenylalanine hydroxylase.

Last Update: 2017-04-26
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Latvian

hiperfenilalanīnēmija (hpa) ir diagnosticēta kā nenormāla asins fenilalanīna līmeņu paaugstināšanās, un to parasti izraisa autosomāli recesīvas gēnu mutācijas, kas kodē enzīmu fenilalanīnhidroksilāzi (fenilketonūrijas, pku gadījumā) vai enzīmus, kas iesaistīti 6r-tetrahidrobiopterīna (6r-bh4) biosintēzē vai reģenerācijā (bh4 deficīta gadījumā).

English

hyperphenylalaninaemia (hpa) is diagnosed as an abnormal elevation in blood phenylalanine levels and is usually caused by autosomal recessive mutations in the genes encoding for phenylalanine hydroxylase enzyme (in the case of phenylketonuria, pku) or for the enzymes involved in 6r-tetrahydrobiopterin (6r- bh4) biosynthesis or regeneration (in the case of bh4 deficiency).

Last Update: 2017-04-26
Usage Frequency: 1
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