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Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.
Expert recommendations for the laboratory diagnosis of MPS VI.
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID).
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
Two-tiered universal newborn screening strategy for severe combined immunodeficiency.