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

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 objective of t...

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Detalles Bibliográficos
Autores principales: Randall, Jason A., Sutter, Carolyn, Raither, Lydia, Wang, Stella, Bailey, Evan, Perfetti, Riccardo, Shendelman, Shoshana, Burbridge, Claire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522554/
https://www.ncbi.nlm.nih.gov/pubmed/37751006
http://dx.doi.org/10.1186/s41687-023-00635-2

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