Page 39 - Read Online

Page 403 Chandramohan et al. J Transl Genet Genom 2024;8:394-404 https://dx.doi.org/10.20517/jtgg.2024.38

of female patients with normal serologic work-up and who are oligosymptomatic may still have significant
histologic damage. Kidney biopsies in this population can help guide clinical management.

DECLARATIONS
Authors’ contributions
Conceptualization: Wallace E, Warnock DG, Chandramohan D, Moreman M, Madi S
Data curation: Ahmad M, Huma F, Singleton C, Wallace E
Methodology: Chandramohan D, Moreman M, Madi S, Huma F, Ahmad M, Singleton C, Warnock DG
Investigation: Chandramohan D, Moreman M, Madi S, Huma F, Ahmad M, Singleton C, Warnock DG
Writing, review, and editing: Chandramohan D, Moreman M, Madi S, Wallace E
Supervision: Warnock DG, Wallace E
All authors have read and agreed to the final version of the manuscript.

Availability of data and materials
The data are available from the corresponding author upon reasonable request.

Financial support and sponsorship
The authors received no financial support for this article's research, authorship, and/or publication.

Conflicts of interest
Dr. Wallace E has received research funding from Chiesi, Sanofi Genzyme, Uniqure, Spark Therapeutics,
and Idorsia, consulting fees from Chiesi, Sanofi Genzyme, and Kyowa Kirin, and speaker honoraria from
Chiesi, Sanofi Genzyme, Natera, and Amicus. Dr. Warnock DG has received consulting fees from Amicus,
Chiesi, Idorsia, and Protalix. The other authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
The institution Review Board at the University of Alabama in Birmingham reviewed and approved the
study protocol (IRB-300004655). Written informed consents were obtained prior to the kidney biopsies, but
consent for the study was waived due to the minimal risk nature of the project.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2024.

REFERENCES
1. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30. DOI PubMed PMC
2. Lukas J, Giese AK, Markoff A, et al. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification
system in Fabry disease. PLoS Genet 2013;9:e1003632. DOI PubMed PMC
3. Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the
fabry registry. J Inherit Metab Dis 2007;30:184-92. DOI
4. Galanos J, Nicholls K, Grigg L, Kiers L, Crawford A, Becker G. Clinical features of Fabry's disease in Australian patients. Intern Med
J 2002;32:575-84. DOI PubMed
5. Gupta S, Ries M, Kotsopoulos S, Schiffmann R. The relationship of vascular glycolipid storage to clinical manifestations of Fabry
disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine 2005;84:261-8. DOI PubMed
6. Orteu CH, Jansen T, Lidove O, et al; FOS Investigators. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J
Dermatol 2007;157:331-7. DOI
7. Echevarria L, Benistan K, Toussaint A, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet
2016;89:44-54. DOI
8. Merscher S, Fornoni A. Podocyte pathology and nephropathy - sphingolipids in glomerular diseases. Front Endocrinol 2014;5:127.