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Orphanet Journal of Rare Diseases|May 16, 2020
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)Karolina M Stepien, Anait K Gevorkyan, Christian J Hendriksz, et al.Orphanet Journal of Rare Diseases|June 9, 2012
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlationsAndreas Herzog, Ralf Hartung, Arnold J J Reuser, et al.Molecular Genetics and Metabolism Reports|February 2, 2026
Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndromeCarolina F M de Souza, Barbara K Burton, Philippe M Campeau, et al.American Journal of Medical Genetics. Part A|April 26, 2014
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey StudyRoberto Giugliani, Christina Lampe, Nathalie Guffon, et al.Genetics in Medicine Open|December 3, 2025
Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severityJames H Nurse, Julia B Hennermann, Marco A Curiati, et al.Acta Paediatrica (Oslo, Norway : 1992)|May 26, 2018
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatmentAnna Tylki-Szymańska, Linda De Meirleir, Maja Di Rocco, et al.Zeitschrift Fur Gastroenterologie|April 11, 2023
Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemicClaus Niederau, Claudia Regenbogen, Hans-Martin Fruehauf, et al.Journal of Inherited Metabolic Disease|February 7, 2013
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and managementGuirish A Solanki, Kenneth W Martin, Mary C Theroux, et al.Acta Paediatrica (Oslo, Norway : 1992)|September 23, 2018
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcomeRossella Parini, Alexander Broomfield, Maureen A Cleary, et al.Skeletal Radiology|January 7, 2014
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnoseRalph S Lachman, Barbara K Burton, Lorne A Clarke, et al.Pageof 7