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University of California San Francisco
UCSF School of Medicine | Department of Pediatrics UCSF Medical Center

Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.

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Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.

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Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.

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Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States.

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Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.

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Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

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Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

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Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

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Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.

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Mucopolysaccharidosis VI.

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