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Susan Hale

Boston Children's Hospital

5

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24

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Immune modulation in a patient with Morquio syndrome treated with enzyme replacement therapy

2018 The Journal of Allergy and Clinical Immunology: In Practice
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Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants

2018 American Journal of Medical Genetics Part A
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Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)

2013 Pediatrics International
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Musculoskeletal health in Hunter disease (MPS II): ERT improves functional outcomes

2010 Journal of pediatric rehabilitation medicine
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38. Quality-of-life changes in MPS II patients receiving enzyme replacement therapy

2008 Molecular Genetics and Metabolism
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Citations (1)