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pro vyhledávání: '"Maarten Mackenbach, MD"'
Autor:
Linda E. Scheffers, Karolijn Dulfer, PhD, Charlotte Lanser, Maarten Mackenbach, MD, Ans T. van der Ploeg, MD, PhD, Johanna M.P. van den Hout, MD, PhD, Linda E. van den Berg, MD, PhD
Publikováno v:
Journal of Pediatrics: Clinical Practice, Vol 14, Iss , Pp 200116- (2024)
Objective: Pompe disease is an inheritable metabolic myopathy caused by the deficiency of the lysosomal enzyme acid-⍺-glucosidase. The aim of this study was to investigate self-reported and parent-reported health related quality of life (HR-QOL) an
Externí odkaz:
https://doaj.org/article/c5be68c4b3fc4ed89f6e6f175cfcef4c
