Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa

Autor: J. Schaefers, L. J. van der Giessen, C. Klees, E. H. Jacobs, S. Sieverdink, M. H. G. Dremmen, J. K. H. Spoor, A. T. van der Ploeg, J. M. P. van den Hout, H. H. Huidekoper

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Abstract Background Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponase alfa is now availab

Externí odkaz: https://doaj.org/article/8c57c49f00064c658440a8768520074c

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers

Autor: E. Poelman, M. Hoogeveen-Westerveld, J. M. P. van den Hout, R. G. M. Bredius, A. C. Lankester, G. J. A. Driessen, S. S. M. Kamphuis, W. W. M. Pijnappel, A. T. van der Ploeg

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)

Abstract Purpose To evaluate whether immunomodulation can eliminate high sustained antibody levels, and thereby improve clinical outcome in classic infantile Pompe patients receiving enzyme replacement therapy (ERT) with recombinant human alpha-gluco

Externí odkaz: https://doaj.org/article/5d08294a08ec4d49bfdeb998c62167fc

Broad variation in phenotypes for common GAA genotypes in Pompe disease

Autor: Hannerieke J. M. P. van den Hout, Douglas O. S. de Faria, Monica Y. Niño, Stijn L.M. in 't Groen, W.W.M. Pim Pijnappel, Atze J. Bergsma, Ans T. van der Ploeg, Marianne Hoogeveen-Westerveld

Publikováno v: Human Mutation, 42(11), 1461-1472. Wiley-Liss Inc.

Patients with the common c.-32-13T > G/null GAA genotype have a broad variation in age at symptom onset, ranging from early childhood to late adulthood. Phenotypic variation for other common GAA genotypes remains largely unexplored. Here, we analyzed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a19cd5c87ebdc6149559494441ca2143
https://pure.eur.nl/en/publications/593cfa8a-7978-451d-ba62-2062a18b8a95

A genetic modifier of symptom onset in Pompe disease

Autor: Amelia Morrone, Jan J.A. van den Dorpel, Ans T. van der Ploeg, Andrea Dardis, Stijn L.M. in 't Groen, Hannerieke J. M. P. van den Hout, W.W.M. Pim Pijnappel, Bruno Bembi, Benedikt Schoser, Elisabetta Pasquini, Nadine A. M. E. van der Beek, Antonio Toscano, Atze J. Bergsma, Olimpia Musumeci, Albina Tummolo

Publikováno v: EBioMedicine, 43, 553-561. Elsevier

Background Neonatal screening for Pompe disease is complicated by difficulties in predicting symptom onset in patients with the common c.-32-13T>G (IVS1) variant/null (i.e. fully deleterious) acid α-glucosidase (GAA) genotype. This splicing variant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9878a04cb3c29170883f7bf349136f85
https://doi.org/10.1016/j.ebiom.2019.03.048

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients

Autor: Esther Poelman, A.T. van der Ploeg, J. M. P. van den Hout, L. J. van der Giessen, J. van den Dorpel, N.A.M.E. van der Beek, L. Harlaar, P.A. van Doorn, H. A. van Kooten

Publikováno v: Orphanet Journal of Rare Diseases, 15(1):247. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseases

Background Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit distal muscle weakness at an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326be033ab928243efcbdb890524b2a8
https://pure.eur.nl/en/publications/ba162367-65ef-42bb-8306-31bcfb409449