Josanne Cox‐Brinkman

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1.1K

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Active since

2006

Affiliations

Amsterdam UMC Location University of Amsterdam(Current)

University College London

University of Amsterdam

Josanne Cox‐Brinkman is an author at Amsterdam UMC Location University of Amsterdam specializing in life sciences, enzyme replacement therapy, and fabry disease.

Publications per year

2006–2008

Publications

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Johannes M. F. G. Aerts, J.E.M. Groener, Sijmen Kuiper et al. · Proceedings of the National Academy of Sciences · 2008 · 727 citations · Full text

Life Sciences, Biochemistry, Pathology +14

Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome

Josanne Cox‐Brinkman, J. E. Wraith, A. O’Meara et al. · Bone Marrow Transplantation · 2006 · 104 citations

Medicine, Hematology, Renal Replacement Therapy +10

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

Christiane Auray‐Blais, Denis Cyr, Aimé Ntwari et al. · Molecular Genetics and Metabolism · 2007 · 96 citations

Medicine, Pediatrics, Renal Pathophysiology +6

Three-dimensional face shape in Fabry disease

Josanne Cox‐Brinkman, Anouk C. Vedder, Carla E. M. Hollak et al. · European Journal of Human Genetics · 2007 · 56 citations · Full text

Medicine, Pathology, Maxillofacial Imaging +2

Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy

Anouk C. Vedder, Josanne Cox‐Brinkman, Carla E. M. Hollak et al. · Molecular Genetics and Metabolism · 2006 · 53 citations

Life Sciences, Biochemistry, Pathology +10

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