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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2021
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension studyRavi Savarirayan, Louise Tofts, Melita Irving, et al.
Orphanet Journal of Rare Diseases|February 15, 2022
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort studyHelge Hebestreit, Cornelia Zeidler, Christopher Schippers, et al.
Orphanet Journal of Rare Diseases|August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic reviewDanique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2022
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational studyRavi Savarirayan, Melita Irving, Paul Harmatz, 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.
Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
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