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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.
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.
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: cohen pfeffer j. 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.
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
Leal-Pardinas F, Truty R, McKnight DA, Johnson B, Morales A, Bristow SL, Yar Pang T, Cohen-Pfeffer J, Izzo E, Sankar R, Koh S, Wirrell EC, Millichap JJ, Aradhya S. Leal-Pardinas F, et al. Among authors: cohen pfeffer j. Epilepsia. 2022 Jul;63(7):e68-e73. doi: 10.1111/epi.17269. Epub 2022 May 10. Epilepsia. 2022. PMID: 35474188 Free PMC article.
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. Among authors: cohen pfeffer j. 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.
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. 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.
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.
Longo N, Arnold GL, Pridjian G, Enns GM, Ficicioglu C, Parker S, Cohen-Pfeffer JL; Phenylketonuria Demographics, Outcomes and Safety Registry. Longo N, et al. Mol Genet Metab. 2015 Apr;114(4):557-63. doi: 10.1016/j.ymgme.2015.02.003. Epub 2015 Feb 16. Mol Genet Metab. 2015. PMID: 25724073 Free 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.
Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.
Grange DK, Hillman RE, Burton BK, Yano S, Vockley J, Fong CT, Hunt J, Mahoney JJ, Cohen-Pfeffer JL; Phenylketonuria Demographics Outcomes and Safety (PKUDOS) registry; Maternal Phenylketonuria Observational Program (PKU MOMS) sub-registry. Grange DK, et al. Mol Genet Metab. 2014 May;112(1):9-16. doi: 10.1016/j.ymgme.2014.02.016. Epub 2014 Mar 12. Mol Genet Metab. 2014. PMID: 24667082 Free article.
18 results