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Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: data from a 10-year prospective study.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Factor VIII and vWF deficiency in STT3A-CDG.
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.