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

Hermans, ME; van Oers, HA; Geurtsen, GJ; Haverman, L; Hollak, CEM; Rubio-Gozalbo, ME; Bosch, AM

Bosch, AM (通讯作者),Amsterdam UMC Locat Univ Amsterdam, Emma Childrens Hosp, Dept Pediat, Div Metab Dis, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands.;Bosch, AM (通讯作者),Amsterdam Gastroenterol Endocrinol Metab, Inborn Errors Metab, Amsterdam, Netherlands.

ORPHANET JOURNAL OF RARE DISEASES, 2023; 18 (1):

Abstract

BackgroundClassical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and ......

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