Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease

INTRODUCTION: Variants in the galactosidase alpha (GLA) gene cause Fabry disease (FD), an X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency. Recently, disease-modifying therapies have been developed, and simple diagnostic biomarkers for FD are required to initiate th...

Descripción completa

Detalles Bibliográficos
Autores principales: Nakamura, Katsuya, Mukai, Saki, Takezawa, Yuka, Natori, Yuika, Miyazaki, Akari, Ide, Yuichiro, Takebuchi, Mayu, Nanato, Kana, Katoh, Mizuki, Suzuki, Harue, Sakyu, Akiko, Kojima, Tomomi, Kise, Emiko, Hanafusa, Hiroaki, Kosho, Tomoki, Kuwahara, Koichiro, Sekijima, Yoshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267638/
https://www.ncbi.nlm.nih.gov/pubmed/37323223
http://dx.doi.org/10.1016/j.ymgmr.2023.100983

Ejemplares similares

Ejemplares similares