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Cited by 650

The DOI matches its Crossref record; 67 of the 67 references it cites were found in a registry or an index.

Fabry disease revisited: Management and treatment recommendations for adult patients

Open access
Ortiz, Alberto, Germain, Dominique P., Desnick, Robert J., Politei, Juan, Mauer, Michael, Burlina, Alessandro, Eng, Christine, Hopkin, Robert J., Laney, Dawn, Linhart, Aleš, Waldek, Stephen, Wallace, Eric, Weidemann, Frank, Wilcox, William R.·2018·Molecular Genetics and Metabolism
DOI 10.1016/j.ymgme.2018.02.014
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Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the "classic" phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac phenotype. Manifestations are diverse in female patients in part due to variations in residual enzyme activity and X chromosome inactivation patterns. Enzyme replacement therapy (ERT) and adjunctive treatments can provide significant clinical benefit. However, much of the current literature reports outcomes after late initiation of ERT, once substantial organ damage has already occurred. Updated monitoring and treatment guidelines for pediatric patients with Fabry disease have recently been published. Expert physician panels were convened to develop updated, specific guidelines for adult patients. Management of adult patients depends on 1) a personalized approach to care, reflecting the natural history of the specific disease phenotype; 2) comprehensive evaluation of disease involvement prior to ERT initiation; 3) early ERT initiation; 4) thorough routine monitoring for evidence of organ involvement in non-classic asymptomatic patients and response to therapy in treated patients; 5) use of adjuvant treatments for specific disease manifestations; and 6) management by an experienced multidisciplinary team.

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Metadata

Authors
Ortiz, A., Germain, D. P., Desnick, R. J., Politei, J., Mauer, M., Burlina, A., Eng, C., Hopkin, R. J., Laney, D., Linhart, A., Waldek, S., Wallace, E., Weidemann, F., & Wilcox, W. R.
Venue
Molecular Genetics and Metabolism
Publisher
Elsevier BV
Published
2018-04
Volume
123
Issue
4
Pages
416-427
ISSN
1096-7192 (ISSN-L)
DOI
10.1016/j.ymgme.2018.02.014
OpenAlex
W2789753965
Cited by
650
References
67
FWCI
32.66
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: Fabry disease revisited: Management and treatment recommendations for adult patients. https://app.cochat.ai/papers/10.1016/j.ymgme.2018.02.014
The paper
Ortiz, A., Germain, D. P., Desnick, R. J., Politei, J., Mauer, M., Burlina, A., Eng, C., Hopkin, R. J., Laney, D., Linhart, A., Waldek, S., Wallace, E., Weidemann, F., & Wilcox, W. R. (2018). Fabry disease revisited: Management and treatment recommendations for adult patients. Molecular Genetics and Metabolism. https://doi.org/10.1016/j.ymgme.2018.02.014

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.