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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Katsuya Nakamura, Saki Mukai, Yuka Takezawa, Yuika Natori, Akari Miyazaki, Yuichiro Ide, Mayu Takebuchi, Kana Nanato, Mizuki Katoh, Harue Suzuki, Akiko Sakyu, Tomomi Kojima, Emiko Kise, Hiroaki Hanafusa, Tomoki Kosho, Koichiro Kuwahara, Yoshiki Sekijima
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2023-09-01
Schriftenreihe:Molecular Genetics and Metabolism Reports
Schlagworte:
Fabry disease
Mulberry body
Mulberry cell
Targeted genetic approach
GLA
Accuracy
Online-Zugang:http://www.sciencedirect.com/science/article/pii/S2214426923000290
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