A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

Autor: Eija H Seppälä, Arnold J J Reuser, Hannes Lohi

Publikováno v: PLoS ONE, Vol 8, Iss 2, p e56825 (2013)

Pompe disease is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes. This glycogen storage disease type II has been report

Externí odkaz: https://doaj.org/article/6c4ece5f35ca47fb8c285f0d495bf440

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Autor: Arnold J. J. Reuser, Ans T. Ploeg, Yin‐Hsiu Chien, Juan Llerena, Mary‐Alice Abbott, Paula R. Clemens, Virginia E. Kimonis, Nancy Leslie, Sonia S. Maruti, Bernd‐Jan Sanson, Roberto Araujo, Magali Periquet, Antonio Toscano, Priya S. Kishnani, null on behalf of the Pompe Registry Sit

Publikováno v: Human Mutation
Human Mutation. Wiley-Liss Inc.

Identification of variants in the acid α‐glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution of GAA sequence variants liste

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce3952e7f5e4c1b1bbe967940bf14600
https://pubmed.ncbi.nlm.nih.gov/31342611

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

Autor: Ans T. van der Ploeg, Carin M. van Gelder, Iris Plug, Marianne Hoogeveen-Westerveld, Marian A. Kroos, Arnold J. J. Reuser

Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 38(2), 305-314. Springer Netherlands

Background Enzyme-replacement therapy (ERT) in Pompe disease—an inherited metabolic disorder caused by acid α-glucosidase deficiency and characterized in infants by generalized muscle weakness and cardiomyopathy—can be complicated by immune resp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fd114e8aa2f82e15256b8ba6dd91884
https://doi.org/10.1007/s10545-014-9707-6

Macrophage Involvement in Mitral Valve Pathology in Mucopolijsaccharidosis Type VI (Maroteaux-Lamy Syndrome

Autor: Ans T. van der Ploeg, Ad J.J.C. Bogers, Marion M. G. Brands, Willem A. Helbing, Ronald R. de Krijger, Jorine A. Roelants, Arnold J. J. Reuser

Publikováno v: American Journal of Medical Genetics, 2550-2553. Wiley-Liss Inc.
STARTPAGE=2550;ENDPAGE=2553;ISSN=0148-7299;TITLE=American Journal of Medical Genetics

Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy. We report on a child with Mar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0bf73c3771cc2db14acf00f014c2f34
https://doi.org/10.1002/ajmg.a.36105

Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

Autor: Arnold J. J. Reuser, Carla G. van El, Martina C. Cornel, Juna M. de Vries, Stephanie S Weinreich, M.L.C. Hagemans, Ans T. van der Ploeg, Carin M. van Gelder, Deniz Güngör, Tessel Rigter

Publikováno v: Molecular Genetics and Metabolism, 107(3), 448-455. Academic Press Inc.
Molecular Genetics and Metabolism, 107, 448-455. Academic Press
Rigter, T, Weinreich, S S, van El, C G, de Vries, J M, van Gelder, C M, Gungor, D, Reuser, A J J, Hagemans, M L C, Cornel, M C & van der Ploeg, A T 2012, ' Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening ', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 448-455 . https://doi.org/10.1016/j.ymgme.2012.09.017

Since the introduction of enzyme replacement therapy for Pompe disease, awareness and early diagnosis have gained importance. Because the therapy is most effective when started early and methods for dried bloodspot screening for Pompe disease are cur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47220f883f75239d954c83d3549d519f