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Journal of Inherited Metabolic Disease|February 28, 2023
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter studyNathalie Guffon, Vassiliki Konstantopoulou, Julia B Hennermann, et al.
PLOS Digital Health|June 29, 2023
FindZebra online search delving into rare disease case reports using natural language processingValentin Liévin, Jonas Meinertz Hansen, Allan Lund, et al.
Neuromuscular Disorders : NMD|March 4, 2022
No effect of triheptanoin in patients with phosphofructokinase deficiencyDaniel Emil Raaschou-Pedersen, Karen Lindhardt Madsen, Nicoline Løkken, et al.
Molecular Genetics and Metabolism|September 14, 2023
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable diseaseMalene Mejdahl Nielsen, Esben Thade Petersen, Christina Dühring Fenger, et al.
Danish Medical Journal|January 8, 2020
Danish expanded newborn screening is a successful preventive public health programmeAllan Lund, Flemming Wibrand, Kristin Skogstrand, et al.
Biochimie|February 17, 2021
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic diseaseSarah C Grünert, William Foster, Anke Schumann, 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.
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.
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