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Sihoun Hahn

Seattle Children's

5

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21

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The Pompe disease experience in Washington State: Epidemiology, clinical comparisons and mutation update

2013 Molecular Genetics and Metabolism
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Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis

2011 Molecular Genetics and Metabolism
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55. A case report of Morquio syndrome (MPS IVA) with Morgagni diaphragmatic hernia

2010 Molecular Genetics and Metabolism
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56. Genotype–phenotype correlation of two rarer Gaucher disease mutations

2010 Molecular Genetics and Metabolism
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