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Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in hurler syndrome.
Braunlin E, Mackey-Bojack S, Panoskaltsis-Mortari A, Berry JM, McElmurry RT, Riddle M, Sun LY, Clarke LA, Tolar J, Blazar BR. Braunlin E, et al. Among authors: clarke la. Pediatr Res. 2006 Jan;59(1):27-32. doi: 10.1203/01.pdr.0000190579.24054.39. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16326988
Mucopolysaccharidosis I: management and treatment guidelines.
Muenzer J, Wraith JE, Clarke LA; International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Muenzer J, et al. Among authors: clarke la. Pediatrics. 2009 Jan;123(1):19-29. doi: 10.1542/peds.2008-0416. Pediatrics. 2009. PMID: 19117856
Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.
van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E. van der Lee JH, et al. Mol Genet Metab. 2017 Jun;121(2):70-79. doi: 10.1016/j.ymgme.2017.05.004. Epub 2017 May 6. Mol Genet Metab. 2017. PMID: 28501294 Free article.
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
van der Lee JH, Morton J, Adams HR, Clarke L, Eisengart JB, Escolar ML, Giugliani R, Harmatz P, Hogan M, Kearney S, Muenzer J, Muschol N, Rust S, Saville BR, Semrud-Clikeman M, Wang R, Shapiro E. van der Lee JH, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):181-196. doi: 10.1016/j.ymgme.2020.08.007. Epub 2020 Aug 31. Mol Genet Metab. 2020. PMID: 32917509 Free article.
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
Lachman RS, Burton BK, Clarke LA, Hoffinger S, Ikegawa S, Jin DK, Kano H, Kim OH, Lampe C, Mendelsohn NJ, Shediac R, Tanpaiboon P, White KK. Lachman RS, et al. Among authors: clarke la. Skeletal Radiol. 2014 Mar;43(3):359-69. doi: 10.1007/s00256-013-1797-y. Epub 2014 Jan 4. Skeletal Radiol. 2014. PMID: 24389823 Free PMC article.
159 results