Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living

BACKGROUND: Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant and toxic metabolite, galactitol. Newborn screening and ti...

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Detalles Bibliográficos
Autores principales: Randall, Jason A., Sutter, Carolyn, Wang, Stella, Bailey, Evan, Raither, Lydia, Perfetti, Riccardo, Shendelman, Shoshana, Burbridge, Claire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959560/
https://www.ncbi.nlm.nih.gov/pubmed/35346295
http://dx.doi.org/10.1186/s13023-022-02287-9

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