Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ans T. Ploeg"'
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, Monica Y. Niño, Stijn L.M. in 't Groen, Atze J. Bergsma, Nadine A.M.E. Beek, Marian Kroos, Marianne Hoogeveen‐Westerveld, W.W.M. Pim Pijnappel
Publikováno v:
Human Mutation. 40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d857374b03b004863896934dea22dd6
https://doi.org/10.1002/humu.23934
https://doi.org/10.1002/humu.23934
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.
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
https://pubmed.ncbi.nlm.nih.gov/31342611