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American Journal of Medical Genetics. Part A|September 6, 2025
Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5POZainab Al Masseri, Laura Guilder, Michal Inbar-Feigenberg, et al.Molecular Genetics and Metabolism Reports|May 17, 2021
Hyperleucinosis during infections in maple syrup urine disease post liver transplantationLaura Guilder, Carlos E Prada, Sofia Saenz, et al.Therapeutic Advances in Rare Disease|May 14, 2023
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case seriesSilvia Radenkovic, Christin Johnsen, Andreas Schulze, et al.Journal of Inherited Metabolic Disease|February 23, 2026
Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn ScreeningAnna T Reischl-Hajiabadi, Laura Guilder, Michal Inbar-Feigenberg, et al.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.Metabolism: Clinical and Experimental|January 30, 2026
Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trialMaria Giżewska, Anita Inwood, Renáta Tyčová, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.Pageof 1