Funder
The Dutch charity organization Metakids
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics(clinical),Genetics
Reference33 articles.
1. Von Figura K, Gieselmann V, Jaeken J (2001) Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease McGraw-Hill, New York, pp 3695–3724
2. van Rappard DF, Boelens JJ, Wolf NI (2015) Metachromatic leukodystrophy: disease spectrum and approaches for treatment. Best Pract Res Clin Endocrinol Metab 29(2):261–273.
https://doi.org/10.1016/j.beem.2014.10.001
3. Cesani M, Lorioli L, Grossi S, Amico G, Fumagalli F, Spiga I, Filocamo M, Biffi A (2016) Mutation update of ARSA and PSAP genes causing metachromatic leukodystrophy. Hum Mutat 37(1):16–27.
https://doi.org/10.1002/humu.22919
4. Lorioli L, Cesani M, Regis S, Morena F, Grossi S, Fumagalli F, Acquati S, Redaelli D, Pini A, Sessa M, Martino S, Filocamo M, Biffi A (2014) Critical issues for the proper diagnosis of metachromatic leukodystrophy. Gene 537(2):348–351.
https://doi.org/10.1016/j.gene.2013.11.062
5. Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer H, Ol'khovych NV, Regis S, Sinke R, Tylki-Szymanska A, Czartoryska B (2005) Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. Mol Genet Metab 86(3):353–359.
https://doi.org/10.1016/j.ymgme.2005.07.010
Cited by
14 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献