How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years-Reference-Cited by-同舟云学术

How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years

Published:2022-12-02 Issue:4 Volume:44 Page:1375-1381
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Strunk Daniel^ORCID,Becker Jana,Veltkamp Roland,Meuth Sven G.,Bauer Peter,Böttcher Tobias,Rolfs Arndt,Schwitalla Jan Claudius,Kraemer Markus

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10072-022-06533-7.pdf

Reference25 articles.

1. Zarate YA, Hopkin RJ (2008) Fabry’s disease. Lancet Lond Engl 372:1427–1435. https://doi.org/10.1016/S0140-6736(08)61589-5

2. Schiffmann R (2009) Fabry disease. Pharmacol Ther 122:65–77. https://doi.org/10.1016/j.pharmthera.2009.01.003

3. Linthorst GE, Vedder AC, Aerts JMFG, Hollak CEM (2005) Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta Int J Clin Chem 353:201–203. https://doi.org/10.1016/j.cccn.2004.10.019

4. Lu Y-H, Huang P-H, Wang L-Y et al (2018) Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry. J Hum Genet 63:1–8. https://doi.org/10.1038/s10038-017-0366-y

5. Cairns T, Müntze J, Gernert J et al (2018) Hot topics in Fabry disease. Postgrad Med J 94:709–713. https://doi.org/10.1136/postgradmedj-2018-136056