Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Pim W W M, Pijnappel"'
Autor:
Vincenza, Gragnaniello, Pim W W M, Pijnappel, Alessandro P, Burlina, Stijn L M, In 't Groen, Daniela, Gueraldi, Chiara, Cazzorla, Evelina, Maines, Giulia, Polo, Leonardo, Salviati, Giovanni, Di Salvo, Alberto B, Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, 33:100929. Elsevier
Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9cbaa38ae1a4fd14ae67719200c633
https://hdl.handle.net/11577/3468263
https://hdl.handle.net/11577/3468263
Autor:
Monique Slijper, Albert J. R. Heck, Andreas O. Helbig, Marc Timmers, Sara Rosati, Bas van Breukelen, Shabaz Mohammed, Pim W W M Pijnappel
Publikováno v:
BMC Genomics
BMC Genomics, Vol 11, Iss 1, p 685 (2010)
BMC Genomics, Vol 11, Iss 1, p 685 (2010)
Background The addition of an acetyl group to protein N-termini is a widespread co-translational modification. NatB is one of the main N-acetyltransferases that targets a subset of proteins possessing an N-terminal methionine, but so far only a handf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6a8d54ac3ccaf202014b2d5c3b3b9c
https://doi.org/10.1186/1471-2164-11-685
https://doi.org/10.1186/1471-2164-11-685
Autor:
Brenkman, Arjan B., Van den Broek, Niels J. F., de Keizer, Peter L. J., van Gent, Dik C., Burgering, Boudewijn M. T.
Publikováno v:
FASEB Journal; Nov2010, Vol. 24 Issue 11, p4271-4280, 10p