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Orphanet Journal of Rare Diseases|October 1, 2018
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of ageAnia C Muntau, Marcel du Moulin, Francois Feillet
Molecular Genetics and Metabolism|February 4, 2010
Outcomes beyond phenylalanine: an international perspectiveFrancois Feillet, Anita MacDonald, Danielle Hartung Perron, et al.
Gastroenterology Research|September 11, 2023
Coma With Hyperammonemia in a Patient With KwashiorkorThibault Vieille, Francois Feillet, Arnaud Wiedemann, et al.
Drugs in R&D|January 10, 2024
Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT StudySufin Yap, Delphine Lamireau, Francois Feillet, et al.
European Journal of Gastroenterology & Hepatology|November 20, 2002
Utilization of cornstarch in glycogen storage disease type IaOlaf A Bodamer, Francois Feillet, Rebecca E Lane, et al.
Molecular Genetics and Metabolism|March 2, 2015
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modelingFriedrich Trefz, Olaf Lichtenberger, Nenad Blau, et al.
Orphanet Journal of Rare Diseases|June 6, 2026
Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practiceAude Servais, Marie Therese Abi-Wardé, Jean-Baptiste Arnoux, et al.
Orphanet Journal of Rare Diseases|May 29, 2026
Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitationAnia C Muntau, Rongrong Zhang, Anupam Chakrapani, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 27, 2017
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?Arnaud Molin, Arnaud Wiedemann, Nick Demers, et al.
Journal of Inherited Metabolic Disease|October 22, 2020
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiencyCecilia Marelli, Christian Lavigne, Karolina M Stepien, et al.
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