Infrared spectroscopy as a new approach for early fabry disease screening: a pilot study

Abstract Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder marked by alpha-galactosidase-A (α-Gal A) deficiency, caused by pathogenic mutations in the GLA gene, resulting in the accumulation of glycosphingolipids within lysosomes. The current screening test relies on measur...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Carolina Teles Barretto, Márcia Helena Cassago Nascimento, Bruna Ferro Brun, Tiago Barcelos da Silva, Pedro Augusto Costa Dias, Cassiano Augusto Braga Silva, Maneesh N. Singh, Francis L. Martin, Paulo Roberto Filgueiras, Wanderson Romão, Luciene Cristina Gastalho Campos, Valerio Garrone Barauna
Format:	Article
Language:	English
Published:	BMC 2024-10-01
Subjects:	Alpha-galactosidase-A (α-Gal A) deficiency Fabry disease Infrared spectroscopy Pattern recognition algorithms PLS-DA
Online Access:	https://doi.org/10.1186/s13023-024-03380-x