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Lancet (London, England)|October 5, 2024
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trialAnia C Muntau, Nicola Longo, Fatih Ezgu, et al.
The Lancet. Diabetes & Endocrinology|January 14, 2017
Key European guidelines for the diagnosis and management of patients with phenylketonuriaFrancjan J van Spronsen, Annemiek Mj van Wegberg, Kirsten Ahring, et al.
Nutrients|December 23, 2022
UK Dietary Practices for Tyrosinaemias: Time for ChangeAnne Daly, Sarah Adam, Heather Allen, et al.
Orphanet Journal of Rare Diseases|December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patientsKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Orphanet Journal of Rare Diseases|September 11, 2014
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaMatthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, et al.
Nutrients|February 13, 2025
UK Patient Access to Low-Protein Prescription Foods in Phenylketonuria (PKU): An Uneasy PathSharon Evans, Cameron Arbuckle, Catherine Ashmore, et al.
Journal of Inherited Metabolic Disease|February 26, 2021
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approachesBryony Ryder, Michal Inbar-Feigenberg, Emma Glamuzina, et al.
Journal of Inherited Metabolic Disease|November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upLindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.
Nutrients|November 27, 2021
Special Low Protein Foods Prescribed in England for PKU Patients: An Analysis of Prescribing Patterns and CostGeorgina Wood, Alex Pinto, Sharon Evans, et al.
Nutrients|September 14, 2024
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria SeverityAlex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, et al.
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