Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan

Abstract Background Patients with Gaucher disease (GD), a rare lysosomal storage disorder, have reduced health-related quality of life (HRQOL). A patient-reported outcome measure (PROM) for HRQOL developed for type 1 GD (GD1) is not appropriate for patients with neuronopathic GD (nGD) types 2 (GD2)...

Full description

Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Aya Narita, Yuta Koto, Shinichi Noto, Masafumi Okada, Midori Ono, Terumi Baba, Rieko Sagara, Norio Sakai
Format:	Article
Language:	English
Published:	BMC 2024-01-01
Subjects:	Gaucher disease Japan Patient reported outcome measures Quality of life Burden of disease Neuronopathic Gaucher disease
Online Access:	https://doi.org/10.1186/s13023-023-02996-9