Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-1057-4
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2. Braunlin E, Mackey-Bojack S, Panoskaltsis-Mortari A, et al (2006) Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in Hurler syndrome. Pediatr Res 59: 27–32. doi: 10.1203/01.pdr.0000190579.24054.39 .
3. Hinek A, Wilson SE (2000) Impaired elastogenesis in Hurler disease: Dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol 156: 925--938.
4. Lin HY, Lin SP, Chuang CK, et al (2005) Mucopolysaccharidosis I under enzyme replacement therapy with laronidase—a mortality case with autopsy report. J Inherit Metab Dis 28: 1146–1148. doi: 10.1007/s10545-005-0211-x .
5. Mohan UR, Hay AA, Cleary MA, et al (2002) Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr 91: 799–804. doi: 10.1080/08035250213211 .
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