Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed

Jagadish Jamboti ^1,2 * , Cynthia H Forrest ^2,3

Cited by CrossRef: 5

1- Laney D, Gupta D, Wechsler S. Getting to the Heart of the Matter: Lysosomal Storage Diseases That Manifest a Cardiac Phenotype. Curr Genet Med Rep. 2018;6(2):28 [Crossref]

2- Martineau T, Boutin M, Côté A, Maranda B, Bichet D, Auray-Blais C. Tandem mass spectrometry analysis of urinary podocalyxin and podocin in the investigation of podocyturia in women with preeclampsia and Fabry disease patients. Clinica Chimica Acta. 2019;495:67 [Crossref]

3- Ouyang Y, Chen B, Pan X, Wang Z, Ren H, Xu Y, Ni L, Yu X, Yang L, Chen N. Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease. Exp Ther Med. 2018; [Crossref]

4- Sodi A, Nicolosi C, Vicini G, Lenzetti C, Virgili G, Rizzo S. Computer-assisted retinal vessel diameter evaluation in Fabry disease. European Journal of Ophthalmology. 2021;31(1):173 [Crossref]

5- Sudhan M, Janakiraman V, Patil R, Oyouni A, Hasan Mufti A, Ahmed S. Asn215Ser, Ala143Thr, and Arg112Cys variants in α-galactosidase A protein confer stability loss in Fabry’s disease. Journal of Biomolecular Structure and Dynamics. 2023;41(19):9840 [Crossref]