Fabry disease: The future is in the past

S.J. van der Veen

Fabry disease: The future is in the past

Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

Abstract

Fabry disease is a rare lysosomal storage disease, caused by pathogenic mutations in the alpha-galactosidase-A gene resulting in a dysfunctional enzyme. Over two decades ago, enzyme replacement therapy (ERT) became available for patients, with approval based on mostly surrogate (pre-clinical) endpoints. Over the years it became evident that treatment may slow down

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	University of Amsterdam
Supervisors/Advisors	Hollak, Carla, Supervisor Langeveld, Mirjam, Co-supervisor van Kuilenburg, André, Co-supervisor
Award date	5 Jul 2023
Print ISBNs	9789464831894
Publication status	Published - 2023

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AB - Fabry disease is a rare lysosomal storage disease, caused by pathogenic mutations in the alpha-galactosidase-A gene resulting in a dysfunctional enzyme. Over two decades ago, enzyme replacement therapy (ERT) became available for patients, with approval based on mostly surrogate (pre-clinical) endpoints. Over the years it became evident that treatment may slow down

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M3 - Phd-Thesis - Research and graduation internal

SN - 9789464831894

ER -

Fabry disease: The future is in the past

Abstract

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