Search Results - "Kwun, Young Hee"
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Overcoming the barriers to diagnosis of Morquio A syndrome
Published in Orphanet journal of rare diseases (30-11-2014)“…Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient…”
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Journal Article -
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Disease-specific growth charts for Korean infants with Prader-Willi syndrome
Published in American journal of medical genetics. Part A (01-01-2015)“…Patients with Prader–Willi syndrome (PWS) present with short stature and obesity. The growth pattern of children with PWS is different from that of the healthy…”
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Journal Article -
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Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)
Published in Molecular genetics and metabolism (01-05-2015)“…Mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome) is caused by deficient activity of the enzyme, N-acetylgalactosamine-4-sulfatase, resulting in…”
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Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis
Published in Molecular genetics and metabolism (01-07-2014)“…Cardiac systolic function is significantly decreased in a proportion of patients with Hunter syndrome. This study was performed to evaluate the change in…”
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Journal Article