Informace o publikaci
Determination of urinary pterins for diagnosis of hyperphenylalaninemia variant forms.
| Autoři | |
|---|---|
| Rok publikování | 1999 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Scripta medica |
| Fakulta / Pracoviště MU | |
| Citace | |
| Obor | Ostatní lékařské obory |
| Klíčová slova | hyperphenylalaninemia; atypical phenylketonuria; pterins |
| Popis | Rare inherited diseases with partial defects in tetrahydrobiopterin biosynthesis or recycling lead to hyperphenylalaninemia caused by lack of sufficient cofactor for phenylalanine hydroxylase. The assessment of urinary pterins proposed as an essential test for accurate diagnosis was used in this study to identify potential variants of hyperphenylalaninemia in clinicaly confirmed cases (9 children) with only one mutation in the phenylalanine hydroxylase gene. |
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