Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test

Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test

In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrospective study, the impact of Phe/NP titration post-...

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Bibliographic Details
Main Authors:	Catarina Sousa Barbosa BSc, Manuela F. Almeida BSc, Cátia Sousa BSc, Sara Rocha MD, Arlindo Guimas MD, Rosa Ribeiro MD, Esmeralda Martins MD, PhD, Anabela Bandeira MD, Bruno M. P. M. Oliveira PhD, Nuno Borges PhD, Anita MacDonald PhD, Júlio C. Rocha PhD
Format:	Article
Language:	English
Published:	SciELO 2018-08-01
Series:	Journal of Inborn Errors of Metabolism and Screening
Online Access:	https://doi.org/10.1177/2326409818788898

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