Zobrazeno 1 - 10
of 18
pro vyhledávání: '"M. A. Kroos"'
Autor:
Clara Sá Miranda, Lies H. Hoefsloot, Karin Naess, Galhana M. Somers-Bolman, Ineke Labrijn-Marks, Irene Mavridou, Trijnie Dijkhuizen, Jasper J. Saris, Marianne Hoogeveen-Westerveld, Ans T. van der Ploeg, Frans W. Verheijen, Olga Amaral, Sirpa Ala-Mello, Hannerieke J. M. P. van den Hout, Dicky J. Halley, Helen Michelakakis, Stijn L.M. in 't Groen, W.W.M. Pim Pijnappel, Marloes Benjamins, M. A. Kroos
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 27(6), 919-927. Nature Publishing Group
European Journal of Human Genetics, 27(6), 919-927. Nature Publishing Group
Collaboration from previous work institution. Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/30737479/ Analyses in our diagnostic DNA laboratory include genes involved in autosomal recessive (AR) lysosomal storage disorders such as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8345058af2e8178d27b294d6d11641e8
https://doi.org/10.1038/s41431-019-0348-y
https://doi.org/10.1038/s41431-019-0348-y
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity
Autor:
Stijn L.M. in 't Groen, Ans T. van der Ploeg, W.W.M. Pim Pijnappel, Marianne Hoogeveen-Westerveld, M. A. Kroos, Monica Y. Niño, Atze J. Bergsma, Nadine A. M. E. van der Beek
Publikováno v:
Human Mutation. Wiley-Liss Inc.
Human Mutation
Human Mutation
Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44e926777b7e67c797935826d7082325
https://pure.eur.nl/en/publications/bea21170-c3d1-4d8d-9631-0e59d5375e01
https://pure.eur.nl/en/publications/bea21170-c3d1-4d8d-9631-0e59d5375e01
Autor:
K. ten Berg, M.G.E.M. Ausems, A. J. J. Reuser, M. A. Kroos, J.H.J. Wokke, A.T. van der Ploeg, O. P. van Diggelen, Frits A. Beemer, K. E. Niezen-Koning, Ron A. Wevers, Lodewijk A. Sandkuijl, Ben J. H. M. Poorthuis
Publikováno v:
Community genetics, 2(2-3), 91-96. S. Karger AG
Community Genetics, 2(2-3), 91-96
Community Genetics, 2(2-3), 91-96
Objectives: To compare the overall birth prevalence of diagnosed glycogen storage disease type II (GSD II) with the predicted frequency based on mutation screening, in order to determine whether GSD II is an underdiagnosed condition, and to analyze w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56dd2b6e8a3b9a55c1442d739e41514d
https://research.rug.nl/en/publications/ff58f49c-f7df-4918-83e6-007cd2127e46
https://research.rug.nl/en/publications/ff58f49c-f7df-4918-83e6-007cd2127e46
Autor:
O. P. van Diggelen, Dubravka Tišlarić, A. Bonizzato, Rodney Harris, A. J. J. Reuser, K. E. Niezen-Koning, Miljenko Kapović, M.G.E.M. Ausems, Ron A. Wevers, Jadranka Paravić, Bojana Brajenović-Milić, Thomas M. Bell, Sara Altieri, H. E. K. De Walle, Joke B.G.M. Verheij, Graziella Borgo, Carlo Castellani, Susan Becker, Zohair Al Halees, Vlatka Jurcan, Hilary Harris, M. A. Kroos, J. Dik F. Habbema, Rossella Rolfini, Ben J. H. M. Poorthuis, G.R.J. Zandwijken, Gerard Pals, Leo P. ten Kate, Mark F. Wildhagen, Dorothy C. Wertz, A.T. van der Ploeg, Luisa Zanolla, Robert M.W. Hofstra, J. Reefhuis, K. ten Berg, Lodewijk A. Sandkuijl, G. Mastella, Robert M. Fineman, Sanja Milotti, And-elko Botica, Frits A. Beemer, J.H.J. Wokke, Martina C. Cornel
Publikováno v:
Public Health Genomics. 2:119-136
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8309178d816e2c6e53d0891b4fdf4a1a
https://doi.org/10.1159/000016198
https://doi.org/10.1159/000016198
Autor:
A.T. van der Ploeg, Arnold J. J. Reuser, M. M. P. Hermans, Agnes G. A. Bijvoet, O. P. van Diggelen, Martin Ph. Verbeet, W. J. Kleijer, M. A. Kroos
Publikováno v:
Muscle & Nerve. 18:S61-S69
Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9fa170a330b638d54158290a2e158ae
https://doi.org/10.1002/mus.880181414
https://doi.org/10.1002/mus.880181414
Autor:
D. J. J. Halley, M. A. Kroos, Atze J. Bergsma, W. Pijnappel, Marianne Hoogeveen-Westerveld, A.T. van der Ploeg
Publikováno v:
Neuromuscular Disorders. 25:S191
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95d4c471910aa3a147465a2f73425888
https://doi.org/10.1016/j.nmd.2015.06.030
https://doi.org/10.1016/j.nmd.2015.06.030
Autor:
Lodewijk A. Sandkuijl, Richard J. Sinke, A. J. J. Reuser, K. ten Berg, K N Roumelioti, Alfons F.J. Bardoel, M. A. Kroos, M.G.E.M. Ausems, Cisca Wijmenga
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 38(8), 527-9. BMJ PUBLISHING GROUP
Editor—Glycogen storage disease type II (GSD II) is an autosomal recessive lysosomal storage disorder caused by deficiency of acid α-glucosidase. The enzyme deficiency results in intralysosomal accumulation of glycogen in skeletal muscle and in ot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::557f8de516097403bdaf493863575479
https://research.rug.nl/en/publications/c297411b-b7ab-4a57-8ca7-a1198ed72e71
https://research.rug.nl/en/publications/c297411b-b7ab-4a57-8ca7-a1198ed72e71
Publikováno v:
Human mutation. 11(3)
Glycogen Storage Disease type II (GSDII) is caused by the deficiency of lysosomal alpha-glucosidase (acid maltase). This paper reports on the characterization of the molecular defects in 6 infantile patients from Turkish ancestry. Five of the 6 patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::94ab36c226cbf1b655ee3dee2345cb68
https://pubmed.ncbi.nlm.nih.gov/9521422
https://pubmed.ncbi.nlm.nih.gov/9521422
Publikováno v:
Molecular and cellular biochemistry. 173(1-2)
Transferrin (Tf) mRNA was recently demonstrated in rat and mouse placental tissue. Rat placental cells were shown to secrete transferrin. The cell type with which Tf mRNA was associated was not investigated. We therefore studied the ability of immuno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::73a5ae91f12707ea432edf4e545f6914
https://pubmed.ncbi.nlm.nih.gov/9278269
https://pubmed.ncbi.nlm.nih.gov/9278269
Publikováno v:
Human mutation. 9(1)
Mutation analysis was performed in a nonconsanguineous Dutch caucasian family with a grandfather presenting the first symptoms of glycogen storage disease type II (acid alpha-glucosidase deficiency) in the sixth decade of life and a grandchild with o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ca9e9111baa079af5b5c689315bf4ba
https://pubmed.ncbi.nlm.nih.gov/8990003
https://pubmed.ncbi.nlm.nih.gov/8990003