Maternal germline mosaicism in Fabry disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
http://link.springer.com/article/10.1007/s10072-019-03754-1/fulltext.html
Reference11 articles.
1. Germain DP (2010) Fabry disease. Orphanet J Rare Dis 5:30
2. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR (2018) Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab 123:416–427
3. Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ (2015) Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet 52:262–268
4. Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP (2016) X-chromosome inactivation in female patients with Fabry disease. Clin Genet 89:44–54
5. Gal A, Hughes DA, Winchester B (2011) Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group. J Inherit Metab Dis 34:509–514
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