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Management Strategies for CLN2 Disease.
Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson JA, Lehwald L, Leung MA, Mikhaylova S, Mink JW, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A. Williams RE, et al. Among authors: shediac r. Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4. Pediatr Neurol. 2017. PMID: 28335910 Free article. Review.
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
Wibbeler E, Wang R, Reyes EL, Specchio N, Gissen P, Guelbert N, Nickel M, Schwering C, Lehwald L, Trivisano M, Lee L, Amato G, Cohen-Pfeffer J, Shediac R, Leal-Pardinas F, Schulz A. Wibbeler E, et al. Among authors: shediac r. J Child Neurol. 2021 May;36(6):468-474. doi: 10.1177/0883073820977997. Epub 2020 Dec 23. J Child Neurol. 2021. PMID: 33356800 Free PMC article.
Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.
Harmatz PR, Garcia P, Guffon N, Randolph LM, Shediac R, Braunlin E, Lachman RS, Decker C. Harmatz PR, et al. Among authors: shediac r. J Inherit Metab Dis. 2014 Mar;37(2):277-87. doi: 10.1007/s10545-013-9654-7. Epub 2013 Oct 10. J Inherit Metab Dis. 2014. PMID: 24108527 Free PMC article. Clinical Trial.
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: shediac r. 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.
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.
Solanki GA, Martin KW, Theroux MC, Lampe C, White KK, Shediac R, Lampe CG, Beck M, Mackenzie WG, Hendriksz CJ, Harmatz PR. Solanki GA, et al. Among authors: shediac r. J Inherit Metab Dis. 2013 Mar;36(2):339-55. doi: 10.1007/s10545-013-9586-2. Epub 2013 Feb 6. J Inherit Metab Dis. 2013. PMID: 23385297 Free PMC article. Review.
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