Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Johanna M P, van den Hout"'
Autor:
Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, Federica Attaianese, Alessandra Verde, Antonietta Tarallo, Vincenza Gragnaniello, Athanasia Ziagaki, Maria Jose’ Guimaraes, Patricio Aguiar, Andreas Hahn, Olga Azevedo, Maria Alice Donati, Beata Kiec-Wilk, Maurizio Scarpa, Nadine A. M. E. van der Beek, Mireja Del Toro Riera, Dominique P. Germain, Hidde Huidekoper, Johanna M. P. van den Hout, Ans T. van der Ploeg, and the MetabERN Subnetwork for Lysosomal Disorders
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Abstract Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Po
Externí odkaz:
https://doaj.org/article/ef4620eaa39f4a08bbe3b14b878a0993
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
Autor:
Imke A. M. Ditters, Nadine A. M. E. van der Beek, Esther Brusse, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hidde H. Huidekoper
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has been provided in the Netherlands since 2008 because it diminishes the burden of treatment, increases patient
Externí odkaz:
https://doaj.org/article/b38054f598804cc0b61cfb2424019d8a
Autor:
Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 56 (2023)
The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods for newborn screening (NBS), more inherited metabolic dis
Externí odkaz:
https://doaj.org/article/3d50f4a1bda74e6c8dfdc49c9d39ba02
Autor:
Harmke A. van Kooten, Imke A. M. Ditters, Marianne Hoogeveen-Westerveld, Edwin H. Jacobs, Johanna M. P. van den Hout, Pieter A. van Doorn, W. W. M. Pim Pijnappel, Ans T. van der Ploeg, Nadine A. M. E. van der Beek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA, alglucosidase alfa) has improved survival, motor outcomes, daily life activity and quality of life in Pompe patients. However, ERT in Pompe disease
Externí odkaz:
https://doaj.org/article/cdbdc84961404c50b4089ea2e7a833db
Autor:
Imke A. M. Ditters, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Ans T. van der Ploeg, Hidde H. Huidekoper, Johanna M. P. van den Hout
Publikováno v:
Biomolecules, Vol 13, Iss 9, p 1414 (2023)
Background: Pompe disease is a lysosomal storage disease characterised by skeletal and respiratory muscle weakness. Since 2006, enzyme replacement therapy (ERT) with alglucosidase alfa has been available. ERT significantly improves the prognosis of p
Externí odkaz:
https://doaj.org/article/0d4897632d264670b67bc1deca48ce31
Autor:
Jan J. A. van den Dorpel, Marjolein H. G. Dremmen, Nadine A. M. E. van der Beek, Dimitris Rizopoulos, Pieter A. van Doorn, Ans T. van der Ploeg, Ryan L. Muetzel, Johanna M. P. van den Hout
Publikováno v:
Journal of Neurology, 270(3), 1662-1671. D. Steinkopff-Verlag
Enzyme replacement therapy has drastically changed prospects of patients with Pompe disease, a progressive metabolic myopathy. As classic infantile patients survive due to treatment, they exhibit progressive white matter abnormalities, while brain in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f41902910f3bfccf6b4f7658ce0b3d6b
https://doi.org/10.1007/s00415-022-11506-z
https://doi.org/10.1007/s00415-022-11506-z
Autor:
Jan J. A. van den Dorpel, Willemijn M. C. van der Vlugt, Marjolein H. G. Dremmen, Ryan Muetzel, Esther van den Berg, Roos Hest, Joni de Kriek, Esther Brusse, Pieter A. van Doorn, Ans T. van der Ploeg, Johanna M. P. van den Hout, Nadine A. M. E. van der Beek
Publikováno v:
Journal of Inherited Metabolic Disease, 45(3), 493-501. Springer Netherlands
Our objective was to investigate brain structure, cerebral vasculature, and cognitive function in a cohort of patients with late-onset Pompe disease, with particular reference to the differences from those with the classic infantile phenotype, where
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4374b1a290a338ac7de3a167afc1ee23
https://doi.org/10.1002/jimd.12469
https://doi.org/10.1002/jimd.12469
Autor:
Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter
Publikováno v:
Journal of Inherited Metabolic Disease, 46(2), 206-219. Springer Netherlands
Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan-side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosacchari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b9c70f5f7449b302e79db2c2a9ae45
https://pure.eur.nl/en/publications/2c037acc-9f86-40d9-adfb-4a386ea040a6
https://pure.eur.nl/en/publications/2c037acc-9f86-40d9-adfb-4a386ea040a6
Autor:
Line Borgwardt MD, Nathalie Guffon MD, Yasmina Amraoui MD, Simon A. Jones MD, Linda De Meirleir MD, Allan M. Lund MD, Mercedes Gil-Campos MD, Johanna M. P. Van den Hout MD, Anna Tylki-Szymanska MD, Silvia Geraci MS, Diego Ardigò MD, PhD, Federica Cattaneo MD, Paul Harmatz MD, Dawn Phillips PT, MS, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
Alpha-mannosidosis, a rare lysosomal storage disorder caused by deficiency of the lysosomal enzyme alpha-mannosidase, results in accumulation of mannose-rich glycoproteins in the tissues and sequelae leading to intellectual disability, ataxia, impair
Externí odkaz:
https://doaj.org/article/b61a305d443c4bb0bc7dbf1805d1bf29
Autor:
Berendine J. Ebbink, Elsa Shapiro, Johanna M. P. Van den Hout, Audrey A. M. Vollebregt, Femke K. Aarsen, Maarten H. Lequin, Ans T. van der Ploeg, Dimitris Rizopoulos
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44(3), 751-762. Wiley
Journal of Inherited Metabolic Disease, 44(3), 751-762. Springer Netherlands
Journal of Inherited Metabolic Disease, 44(3), 751-762. Wiley
Journal of Inherited Metabolic Disease, 44(3), 751-762. Springer Netherlands
Objective: To advance the prediction of the neurocognitive development in MPS II patients by jointly analyzing MRI and neurocognitive data in mucopolysaccharidosis (MPS) II patients. Methods: Cognitive ability scores (CAS) were obtained by neuropsych
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb8edb517b1f03b5b13565ad1d0432a
https://pure.eur.nl/en/publications/b5967124-7be6-4a3a-a7e7-a2a9a6ccb104
https://pure.eur.nl/en/publications/b5967124-7be6-4a3a-a7e7-a2a9a6ccb104