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Updated: Aug 2, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Fenilcetonuria atípica causada por la deficiencia de 7, 8-dihidrobiopterina sintetasa causada por la deficiencia de

A Niederwieser, H C Curtius, O Bettoni

    Lancet (London, England)
    |January 20, 1979
    PubMed
    Resumen

    Este estudio identifica a un paciente con fenilcetonuria atípica y una deficiencia en la 7, 8-dihidrobiopterina sintetasa. La suplementación con precursores de tetrahidrobiopterina redujo efectivamente los niveles séricos de fenilalanina.

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