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Susan L. Hale

Musculoskeletal Manifestations of Sanfilippo Syndrome (Mucopolysaccharidosis Type III)
2011 · Klane K. White, Lori A. Karol, et al. · Journal of Pediatric Orthopaedics · 57
Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses
2013 · Nancy J. Mendelsohn, Timothy Wood, et al. · JIMD Reports · 26
Musculoskeletal health in Hunter disease (MPS II): ERT improves functional outcomes
2010 · Klane K White, Susan Hale, et al. · Journal of Pediatric Rehabilitation Medicine · 20
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Pregnancy in patients with mucopolysaccharidosis: a case series
2016 · Fiona J. Stewart, Andrew Bentley, et al. · Molecular Genetics and Metabolism Reports · 15
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Musculoskeletal Function in Patients With Mucopolysaccharidosis Using the Pediatric Outcomes Data Collection Instrument
2014 · Adam O’Brien, Viviana Bompadre, et al. · Journal of Pediatric Orthopaedics · 15
Novel phenotype of achondroplasia due to biallelicFGFR3pathogenic variants
2018 · Irene J. Chang, Angela Sun, et al. · American Journal of Medical Genetics Part A · 12
Association Between Symptomatic Giant Sacral Meningeal Diverticulum and Spinal Cord Tethering With Thickened Lipomatous Filum
2011 · Frank Feigenbaum, Susan Hale · Spine · 5
Immune modulation in a patient with Morquio syndrome treated with enzyme replacement therapy
2018 · Angela Sun, Walaa Alshuaibi, et al. · The Journal of Allergy and Clinical Immunology In Practice · 4
150. Musculoskeletal health in MPS II: Pediatric Outcomes Data Collection Instrument (PODCI) demonstrates functional improvements in patients on ERT
2009 · Klane White, Susan Hale, et al. · Molecular Genetics and Metabolism · 2
Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis
2016 · Fiona Stewart, Andrew Bentley, et al. · Journal of Inborn Errors of Metabolism and Screening · 1
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Immunomodulation in a patient with Morquio syndrome type A treated with enzyme replacement therapy
2016 · Walaa Alshuaibi, Susan Hale, et al. · Molecular Genetics and Metabolism · 1
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p. P86L )
2013 · Hunter R Underhill, Si Houn Hahn, et al. · Pediatrics International · 1
38. Quality-of-life changes in MPS II patients receiving enzyme replacement therapy
2008 · Susan Hale, J. Lawrence Merritt, et al. · Molecular Genetics and Metabolism · 1
Cover Image, Volume 176A, Number 7, July 2018
2018 · Irene J. Chang, Angela Sun, et al. · American Journal of Medical Genetics Part A
Pregnancy in individuals with mucopolysaccharidosis (MPS): A case series
2016 · Fiona Stewart, Paul Harmatz, et al. · Molecular Genetics and Metabolism
Management of fertility and pregnancy in individuals with mucopolysaccharidosis (MPS)
2016 · Fiona Stewart, Paul Harmatz, et al. · Molecular Genetics and Metabolism
Living with infantile Pompe disease in the enzyme replacement therapy era - an evolving natural history
2014 · Susan L. Hale, Angela Sun, et al. · Molecular Genetics and Metabolism
The Pompe disease experience in Washington State: Epidemiology, clinical comparisons and mutation update
2013 · Susan Hale, Angela Sun, et al. · Molecular Genetics and Metabolism
The Mild Side of MPS Disorders: Are These Cases Being Missed by Urine Screening and Other Common Diagnostic Methods?
2012 · Klane White, Nancy Mendelsohn, et al. · Molecular Genetics and Metabolism
Pearls: Unusual presentation and clinical information in a young MPS II Patient
2011 · Susan Hale · Molecular Genetics and Metabolism
55. A case report of Morquio syndrome (MPS IVA) with Morgagni diaphragmatic hernia
2010 · Susan Hale, Klane White, et al. · Molecular Genetics and Metabolism
56. Genotype–phenotype correlation of two rarer Gaucher disease mutations
2010 · Susan Hale, Lisa Sniderman-King, et al. · Molecular Genetics and Metabolism
Works count: 22
Citation count: 160
H-index: 6
I10-index: 6
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