Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s10072-021-05067-8.pdf
Reference27 articles.
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2. Ren X-T, Wang X-H, Ding C-H, Shen X, Zhang H, Zhang W-H, Li J-W, Ren C-H, Fang F (2019) Next-generation sequencing analysis reveals novel pathogenic variants in four Chinese siblings with late-infantile neuronal ceroid lipofuscinosis. Front Genet 10:370. https://doi.org/10.3389/fgene.2019.00370
3. Lewis G, Morrill AM, Conway-Allen SL, Kim B (2020) Review of cerliponase alfa: recombinant human enzyme replacement therapy for late-infantile neuronal ceroid lipofuscinosis type 2. J Child Neurol 35(5):348–353. https://doi.org/10.1177/0883073819895694
4. Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R (2013) NCL diseases—clinical perspectives. Biochim Biophys Acta 1832(11):1801–1806. https://doi.org/10.1016/j.bbadis.2013.04.008
5. Radke J, Stenzel W, Goebel HH (2015) Human NCL neuropathology. Biochim Biophys Acta (BBA) - Mol Basis Dis 1852(10):2262–2266. https://doi.org/10.1016/j.bbadis.2015.05.007
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