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Search Results - Kuiper, Gé-Ann
Search Results - Kuiper, Gé-Ann
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Limited data to evaluate real‐world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I
by
Kuiper, Gé‐Ann
,
Nijmeijer, Stephanie C. M.
,
Roelofs, Manouck J. M.
,
Lee, Johanneke H.
,
Hollak, Carla E. M.
,
Bosch, Annet M.
Published in
Journal of inherited metabolic disease
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Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation
by
Kuiper, Gé-Ann
,
van Hasselt, Peter M.
,
Boelens, Jaap Jan
,
Wijburg, Frits A.
,
Langereis, Eveline J.
Published in
Molecular genetics and metabolism
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“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
by
Jahic, Amir
,
Günther, Sven
,
Muschol, Nicole
,
Fossøy Stadheim, Barbro
,
Braaten, Øivind
,
Kjensli Hyldebrandt, Hanne
,
Kuiper, Gé‐Ann
,
Tylee, Karen
,
Wijburg, Frits A.
,
Beetz, Christian
Published in
Molecular genetics & genomic medicine
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Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure
by
Kuiper, Gé-Ann
,
Langereis, Eveline J
,
Breyer, Sandra
,
Carbone, Marco
,
Castelein, René M
,
Eastwood, Deborah M
,
Garin, Christophe
,
Guffon, Nathalie
,
van Hasselt, Peter M
,
Hensman, Pauline
,
Jones, Simon A
,
Kenis, Vladimir
,
Kruyt, Moyo
,
van der Lee, Johanna H
,
Mackenzie, William G
,
Orchard, Paul J
,
Oxborrow, Neil
,
Parini, Rossella
,
Robinson, Amy
,
Schubert Hjalmarsson, Elke
,
White, Klane K
,
Wijburg, Frits A
Published in
Orphanet journal of rare diseases
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Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I
by
van Doorn, Jaap
,
van den Broek, Brigitte T.A.
,
Geboers, Ans J.
,
Kuiper, Gé-Ann
,
Boelens, Jaap J.
,
van Hasselt, Peter M.
Published in
Biology of blood and marrow transplantation
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Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation
by
Kuiper, Gé-Ann
,
Van Hasselt, Peter M.
,
Boelens, Jaap Jan
,
Wijburg, Frits A.
,
Langereis, Eveline J.
Published in
Molecular genetics and metabolism
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Thoracolumbar kyphosis in MPS I: A natural history study and an international consensus procedure for the development of a clinical practice guideline
by
Kuiper, Gé-Ann
,
Langereis, Eveline J.
,
NIjmeijer, Stephanie C.M.
,
Breyer, Sandra
,
Carbone, Marco
,
Castelein, Rene M.
,
Eastwood, Deborah M.
,
Garin, Christophe
,
Guffon, Nathalie
,
Van Hasselt, Peter M.
,
Hensman, Pauline
,
Jones, Simon A.
,
Kenis, Vladimir
,
Kruyt, Moyo C.
,
Van der Lee, Johanna H.
,
Mackenzie, William G.
,
Orchard, Paul J.
,
Oxborrow, Neil
,
Parini, Rossella
,
Robinson, Amy
,
Hjalmarsson, Elke Schubert
,
White, Klane K.
,
van Rijn, Rick R.
,
Wijburg, Frits A.
Published in
Molecular genetics and metabolism
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Journal Title
Molecular Genetics And Metabolism
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Biology Of Blood And Marrow Transplantation
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Journal Of Inherited Metabolic Disease
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Molecular Genetics & Genomic Medicine
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Orphanet Journal Of Rare Diseases
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Life Sciences & Biomedicine
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Science & Technology
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Genetics & Heredity
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Enzyme Replacement Therapy
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Humans
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Medicine, Research & Experimental
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Research & Experimental Medicine
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Endocrinology & Metabolism
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Enzymes
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Female
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Hematopoietic Stem Cell Transplantation
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Male
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Mucopolysaccharidosis
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Mucopolysaccharidosis I - Therapy
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Patients
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Transplantation
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3' Untranslated Regions
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: Mucopolysaccharidosis Type I
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Activities Of Daily Living
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Alpha-Iduronidase
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