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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: cohen pfeffer jl. 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.
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
de Los Reyes E, Lehwald L, Augustine EF, Berry-Kravis E, Butler K, Cormier N, Demarest S, Lu S, Madden J, Olaya J, See S, Vierhile A, Wheless JW, Yang A, Cohen-Pfeffer J, Chu D, Leal-Pardinas F, Wang RY. de Los Reyes E, et al. Pediatr Neurol. 2020 Sep;110:64-70. doi: 10.1016/j.pediatrneurol.2020.04.018. Epub 2020 May 4. Pediatr Neurol. 2020. PMID: 32684372 Free article.
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Fietz M, et al. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25. Mol Genet Metab. 2016. PMID: 27553878 Free article.
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA. Weisfeld-Adams JD, et al. Among authors: cohen pfeffer jl. Mol Genet Metab. 2010 Feb;99(2):116-23. doi: 10.1016/j.ymgme.2009.09.008. Epub 2009 Sep 27. Mol Genet Metab. 2010. PMID: 19836982 Free PMC article.
Best practices for the use of intracerebroventricular drug delivery devices.
Slavc I, Cohen-Pfeffer JL, Gururangan S, Krauser J, Lim DA, Maldaun M, Schwering C, Shaywitz AJ, Westphal M. Slavc I, et al. Among authors: cohen pfeffer jl. Mol Genet Metab. 2018 Jul;124(3):184-188. doi: 10.1016/j.ymgme.2018.05.003. Epub 2018 May 16. Mol Genet Metab. 2018. PMID: 29793829 Free article.
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