Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time

Abstract Background Classic Galactosemia (CG) is a rare, autosomal recessive condition. Newborn screening and a timely galactose-restricted diet can resolve acute symptoms and decrease fatalities, but significant chronic, progressive morbidities remain and significantly impact daily life. The object...

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Bibliographic Details

Published in:	Journal of Patient-Reported Outcomes
Main Authors:	Jason A. Randall, Carolyn Sutter, Lydia Raither, Stella Wang, Evan Bailey, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
Format:	Article
Language:	English
Published:	SpringerOpen 2023-09-01
Subjects:	Classic Galactosemia Quality of life Qualitative Survey Interviews Patient
Online Access:	https://doi.org/10.1186/s41687-023-00635-2