TY - THES
T1 - Fabry cardiomyopathy
T2 - Towards early diagnosis and rational follow-up
AU - El Sayed, M.
PY - 2023
Y1 - 2023
N2 - Fabry disease (FD) is a rare, inherited, slowly progressive X-linked lysosomal storage disorder. Mutations in the galactosidase alpha gene (GLA) are the primary cause of FD, leading to a decreased activity of the lysosomal enzyme alpha-galactosidase A (AGAL). This results in intracellular accumulation of the enzymes’ main substrate, globotriaosylceramide (Gb3) in various organs,
AB - Fabry disease (FD) is a rare, inherited, slowly progressive X-linked lysosomal storage disorder. Mutations in the galactosidase alpha gene (GLA) are the primary cause of FD, leading to a decreased activity of the lysosomal enzyme alpha-galactosidase A (AGAL). This results in intracellular accumulation of the enzymes’ main substrate, globotriaosylceramide (Gb3) in various organs,
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M3 - Phd-Thesis - Research and graduation internal
SN - 9789464830521
ER -
