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Autor:
Saskia M Rombach, Johannes M F G Aerts, Ben J H M Poorthuis, Johanna E M Groener, Wilma Donker-Koopman, Erik Hendriks, Mina Mirzaian, Sijmen Kuiper, Frits A Wijburg, Carla E M Hollak, Gabor E Linthorst
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e47805 (2012)
IntroductionEnzyme replacement therapy (ERT) with alpha-Galactosidase A (aGal A) may cause antibody (AB) formation against aGal A in males with Fabry disease (FD). Anti agalsidase ABs negatively influence globotriaosylceramide (Gb3) reduction. We inv
Externí odkaz:
https://doaj.org/article/430552f7237642d1bf77438f9ca510a1
Publikováno v:
Journal of lipid research, 56(4), 936-943. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, 56(4), 936-943
Journal of Lipid Research, Vol 56, Iss 4, Pp 936-943 (2015)
Journal of Lipid Research, 56(4), 936-943
Journal of Lipid Research, Vol 56, Iss 4, Pp 936-943 (2015)
Sulfatides are found in brain as components of myelin, oligodendrocytes, and neurons but are also present in various visceral tissues. Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disorder caused by a deficiency of arylsulfata
Autor:
Marieke Biegstraaten, Linda van der Tol, Ben J. H. M. Poorthuis, Gabor E. Linthorst, Bouwien E. Smid, Carla E. M. Hollak
Publikováno v:
Journal of medical genetics, 52(4), 262-268. BMJ Publishing Group
Fabry disease (FD), a lysosomal storage disorder caused by α-galactosidase A (GLA) gene variants, has a heterogeneous phenotype. GLA variants can lead to classical FD, an attenuated non-classical phenotype, or no disease at all. This study investiga
Autor:
M.A. van den Bergh Weerman, W.E.M. Kok, Bouwien E. Smid, R. H. Lekanne Deprez, Sandrine Florquin, Gabor E. Linthorst, C. E. M. Hollak, Ben J. H. M. Poorthuis, Janneke Timmermans
Publikováno v:
Clinical Genetics. 88:161-166
Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead to classical or non-classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non-classical FD and assess the diagnostic val
Autor:
Marieke Biegstraaten, L. van der Tol, R. H. Lekanne Deprez, Gabor E. Linthorst, Carla E. M. Hollak, Ben J. H. M. Poorthuis, Bouwien E. Smid
Publikováno v:
Journal of medical genetics. 51(1):1-9
Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not express characteristic features of FD. A systematic review on FD s
Autor:
Nick Dekker, Johannes M. F. G. Aerts, Gabor E. Linthorst, Herman S. Overkleeft, Jeroen D. C. Codée, Mina Mirzaian, Johanna E. M. Groener, Ben J. H. M. Poorthuis, Gijs A. van der Marel, Maria J. Ferraz, Johan Lugtenburg, Henrik Gold
Publikováno v:
Clinical Chemistry
Clinical chemistry, 59(3), 547-556. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 59(3), 547-556
Clinical chemistry, 59(3), 547-556. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 59(3), 547-556
BACKGROUND Biochemical markers that accurately reflect the severity and progression of disease in patients with Fabry disease and their response to treatment are urgently needed. Globotriaosylsphingosine, also called lysoglobotriaosylceramide (lysoGb
Publikováno v:
Inherited Metabolic Diseases ISBN: 9783662494080
Enzymes are the ultimate catalysts of chemical reactions and thus form the essence of metabolic pathways to ensure metabolic homeostasis. This occurs in close conjunction with the multiple transmembrane metabolite transporters which allow enzymes loc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::451e664714a7069cd575d017d71587f6
https://doi.org/10.1007/978-3-662-49410-3_38
https://doi.org/10.1007/978-3-662-49410-3_38
Publikováno v:
Analytical and bioanalytical chemistry, 403(6), 1671-1683. Springer Verlag
Analytical and Bioanalytical Chemistry
Analytical and Bioanalytical Chemistry, 403(6), 1671-1683
Analytical and Bioanalytical Chemistry
Analytical and Bioanalytical Chemistry, 403(6), 1671-1683
Many lysosomal storage diseases are characterized by an increased urinary excretion of glycoconjugates and oligosaccharides that are characteristic for the underlying enzymatic defect. Here, we have used capillary high-performance anion-exchange chro
Autor:
C.E.M. Hollak, Wouter Meersseman, Eva Morava, M. F. Mulder, Dirk J. Lefeber, Frits A. Wijburg, Johannes M. F. G. Aerts, David Cassiman, Gepke Visser, E S de Sonnaville, Erik M. Akkerman, Ben J. H. M. Poorthuis, Marcel M.A.M. Mannens, K. E. Niezen-Koning, Ron A. Wevers, Gabor E. Linthorst, Johanna E. M. Groener
Publikováno v:
Molecular Genetics and Metabolism, 107, 3, pp. 526-33
Molecular Genetics and Metabolism, 107(3), 526-533. ACADEMIC PRESS INC ELSEVIER SCIENCE
Hollak, C E M, de Sonnaville, E S V, Cassiman, D, Linthorst, G E, Groener, J E, Morava, E, Wevers, R A, Mannens, M, Aerts, J M F G, Meersseman, W, Akkerman, E, Niezen-Koning, K E, Mulder, M F, Visser, G, Wijburg, A, Lefeber, D & Poorthuis, B J H M 2012, ' Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients ', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 526-533 . https://doi.org/10.1016/j.ymgme.2012.06.015
Molecular Genetics and Metabolism, 107(3), 526-533. Academic Press Inc.
Molecular genetics and metabolism, 107(3), 526-533. Academic Press Inc.
Molecular Genetics and Metabolism, 107, 526-33
Molecular Genetics and Metabolism, 107(3), 526-533. ACADEMIC PRESS INC ELSEVIER SCIENCE
Hollak, C E M, de Sonnaville, E S V, Cassiman, D, Linthorst, G E, Groener, J E, Morava, E, Wevers, R A, Mannens, M, Aerts, J M F G, Meersseman, W, Akkerman, E, Niezen-Koning, K E, Mulder, M F, Visser, G, Wijburg, A, Lefeber, D & Poorthuis, B J H M 2012, ' Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients ', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 526-533 . https://doi.org/10.1016/j.ymgme.2012.06.015
Molecular Genetics and Metabolism, 107(3), 526-533. Academic Press Inc.
Molecular genetics and metabolism, 107(3), 526-533. Academic Press Inc.
Molecular Genetics and Metabolism, 107, 526-33
Niemann-Pick disease (NPD) is a neurovisceral lysosomal storage disorder caused by acid sphingomyelinase (ASM) deficiency, which can be categorized as either Niemann-Pick disease type A [NPD-A], with progressive neurological disease and death in earl