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JIMD Reports|February 12, 2014
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of AgeChristina Lampe, Andrea Atherton, Barbara K Burton, et al.
Molecular Genetics and Metabolism|September 4, 2012
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VIGuirish A Solanki, Tord D Alden, Barbara K Burton, et al.
Molecular Genetics and Metabolism|April 5, 2026
Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challengesJoseph Muenzer, Mark Dant, Patricia I Dickson, et al.
Orphanet Journal of Rare Diseases|March 25, 2022
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centersAnna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, et al.
Orphanet Journal of Rare Diseases|May 7, 2025
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient surveyKarolina M Stepien, Sophie Thomas, Julia B Hennermann, et al.
European Journal of Pediatrics|January 18, 2017
The ethical framework for performing research with rare inherited neurometabolic disease patientsViviana Giannuzzi, Hugo Devlieger, Lucia Margari, et al.
Frontiers in Medicine|March 19, 2021
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European SurveyKarolina M Stepien, Beata Kieć-Wilk, Christina Lampe, et al.
Orphanet Journal of Rare Diseases|October 4, 2013
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedureEveline J Langereis, Andrea Borgo, Ellen Crushell, et al.
Human Mutation|May 26, 2020
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsySarah H Elsea, Alexander Solyom, Kirt Martin, et al.
Molecular Genetics and Metabolism|July 18, 2024
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus studyNathalie Guffon, Barbara K Burton, Can Ficicioglu, et al.
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