Sandra Pohl
AuthID: R-00F-S48
1
TITLE: The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations Full Text
AUTHORS: Renata Voltolini Velho; Frederike L Harms; Tatyana Danyukova; Nataniel F Ludwig; Michael J Friez; Sara S Cathey; Mirella Filocamo; Barbara Tappino; Nilay Gunes; Beyhan Tuysuz; Karen L Tylee; Kathryn L Brammeier; Lesley Heptinstall; Esmee Oussoren; Ans T van der Ploeg; Christine Petersen; Sandra Alves; Gloria D Duran Saavedra; Ida V Schwartz; Nicole Muschol; ...More
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 7
AUTHORS: Renata Voltolini Velho; Frederike L Harms; Tatyana Danyukova; Nataniel F Ludwig; Michael J Friez; Sara S Cathey; Mirella Filocamo; Barbara Tappino; Nilay Gunes; Beyhan Tuysuz; Karen L Tylee; Kathryn L Brammeier; Lesley Heptinstall; Esmee Oussoren; Ans T van der Ploeg; Christine Petersen; Sandra Alves; Gloria D Duran Saavedra; Ida V Schwartz; Nicole Muschol; ...More
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 7
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein (GNPTAB) Full Text
AUTHORS: Raffaella De Pace; Maria Francisca Coutinho; Friedrich Koch Nolte; Friedrich Haag; Maria Joao Prata ; Sandra Alves; Thomas Braulke; Sandra Pohl;
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 3
AUTHORS: Raffaella De Pace; Maria Francisca Coutinho; Friedrich Koch Nolte; Friedrich Haag; Maria Joao Prata ; Sandra Alves; Thomas Braulke; Sandra Pohl;
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 3
