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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
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 |