Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Amber Olsen"'
Autor:
Rebecca C. Ahrens-Nicklas, Laura A. Adang, Lars Schlotawa, Amber Olsen, Alan Finglas, Marzia Pasquali, Michael H. Gelb
Publikováno v:
Molecular Genetics and Metabolism. 138:106995
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54e466447164667b6b058d6986354766
https://doi.org/10.1016/j.ymgme.2022.106995
https://doi.org/10.1016/j.ymgme.2022.106995
Autor:
Maria L. Beltran-Quintero, Xinying Hong, Alan Finglas, Michael H. Gelb, Omar Sherbini, Giancarlo la Marca, Joanne Kurtzberg, Fabiola De Mattia, Maria L. Escolar, Arun Kumar, Francesca Fumagalli, Roberta Damiano, Adeline Vanderver, Martin Sadilek, Alessandro Aiuti, Maria Luisa Della Bona, Teryn R. Suhr, Jessica Daiker, Amy Waldman, Valeria Calbi, Sarah Woidill, Amber Olsen, Laura Adang, Fan Yi
Publikováno v:
Anal Chem
Liquid chromatography-tandem mass spectrometry (LC-MS/MS) assays were developed to measure arylsulfatase A (ARSA) activity in leukocytes and dried blood spot (DBS) using deuterated natural sulfatide substrate. These new assays were highly specific an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f19bd69462c70a8a3b19c8909f9aaf
https://europepmc.org/articles/PMC7203001/
https://europepmc.org/articles/PMC7203001/
Autor:
Laura Adang, Lars Schlotawa, Samuel Hughes, Omar Sherbini, Amber Olsen, Alan Finglas, Kimberly Goodspeed, Rebecca C. Ahrens-Nicklas
Publikováno v:
Molecular Genetics and Metabolism. 126:S21-S22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a3a051795f45208b7d50416ef1452c2
https://doi.org/10.1016/j.ymgme.2018.12.030
https://doi.org/10.1016/j.ymgme.2018.12.030
Autor:
Adeline Vanderver, Florian Eichler, Nicola Brunetti-Pierri, Mauricio De Castro, Giancarlo Parenti, Joerg Klepper, Andrea Ballabio, Alan Finglas, Marcus Lee, Thomas Dierks, Brian Kirmse, Jutta Gaertner, Lars Schlotawa, Laura Adang, Amber Olsen, Rebecca C. Ahrens-Nicklas, Arastoo Vossough, Can Ficicioglu
Publikováno v:
Molecular genetics and metabolism. 123(3)
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f96fc1c9b41283295cc10567a686079f
https://pubmed.ncbi.nlm.nih.gov/29397290
https://pubmed.ncbi.nlm.nih.gov/29397290
Autor:
Mauricio De Castro, Lars Schlotawa, Adeline Vanderver, Alan Finglas, Nicola Brunetti, Marcus Lee, Can Ficicioglu, Brian Kirmse, Andrea Ballabio, Laura Adang, Rebecca C. Ahrens-Nicklas, Amber Olsen
Publikováno v:
Molecular Genetics and Metabolism. 123:S17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c1c59d91dde4a235b1ac974402cabbf
https://doi.org/10.1016/j.ymgme.2017.12.017
https://doi.org/10.1016/j.ymgme.2017.12.017