The challenges of classical galactosemia: HRQoL in pediatric and adult patients

BACKGROUND: Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment. Two decades ago, lower motor-, cognitive- and social health related quality of li...

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Detalles Bibliográficos
Autores principales: Hermans, Merel E., van Oers, Hedy A., Geurtsen, Gert J., Haverman, Lotte, Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Bosch, Annet M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236383/
https://www.ncbi.nlm.nih.gov/pubmed/37268983
http://dx.doi.org/10.1186/s13023-023-02749-8

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