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Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT).
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey.
Growth patterns in patients with mucopolysaccharidosis VII.
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.
Pharmacokinetics of oral l-serine supplementation in a single patient.
Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders.
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.
Pregnancy in patients with mucopolysaccharidosis: a case series.