Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances in Fabry Disease and Marfan Syndrome
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Publisher
Springer Nature Singapore
Link
https://link.springer.com/content/pdf/10.1007/978-981-99-9323-9_7
Reference90 articles.
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3. Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ (2001) Fabry disease: twenty novel α-galactosidase a mutations causing the classical phenotype. J Hum Genet 46:192–196. https://doi.org/10.1007/s100380170088
4. Baptista MV, Ferreira S, Pinho-e-Melo T, Carvalho M, Cruz VT, Carmona C et al (2010) Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study—screening genetic conditions in Portuguese young stroke patients. Stroke 41(3):431–436. https://doi.org/10.1161/STROKEAHA.109.570499
5. Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S et al (2017) The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genet Med 19(4):430–438. https://doi.org/10.1038/gim.2016.122
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