A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

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

Diffusion tensor imaging of the brain in Pompe disease

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

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

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

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

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

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Autor: Alessandro Iuliano, Johanna M. P. Van den Hout, Stijn L.M. in 't Groen, Lies H. Hoefsloot, W.W.M. Pim Pijnappel, David Cassiman, Hannie Douben, Ans T. van der Ploeg, Atze J. Bergsma, Jasper J. Saris, Galhana M. Somers-Bolman, Miguel-Ángel Barba Romero, Douglas O. S. de Faria, Peter Witters, T. Dijkhuizen, Annelies de Klein

Publikováno v: Molecular Therapy-Methods and Clinical Development, 17, 337-348. Cell Press
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 337-348 (2020)
Molecular therapy-Methods & clinical development, 17, 337-348. CELL PRESS

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ecb78b1b70d26d2f28c85fc9157510
https://research.rug.nl/en/publications/02aef7b6-9cb2-463a-9307-f5565e370da8