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Autor:
Bösch, Florin, Landolt, Markus A, Baumgartner, Matthias R, Fernandez, Susana, Forny, Patrick, Gautschi, Matthias, Grünert, Sarah C, Häberle, Johannes, Horvath, Carolina, Karall, Daniela, Lampis, Danila, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Szinnai, Gabor, Huemer, Martina
Publikováno v:
Bösch, Florin; Landolt, Markus A; Baumgartner, Matthias R; Fernandez, Susana; Forny, Patrick; Gautschi, Matthias; Grünert, Sarah C; Häberle, Johannes; Horvath, Carolina; Karall, Daniela; Lampis, Danila; Rohrbach, Marianne; Scholl-Bürgi, Sabine; Szinnai, Gabor; Huemer, Martina (2022). Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism. Molecular genetics and metabolism reports, 31, p. 100876. Elsevier 10.1016/j.ymgmr.2022.100876
Background Living with a non-acute (phenylketonuria) or acute (e.g. urea cycle disorders, organic acidurias) intoxication-type inborn error of metabolism (IT-IEM) can have a substantial impact on health-related quality of life (HrQoL) of paediatric p