| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8310554 | Clinica Chimica Acta | 2016 | 8 Pages |
Abstract
Methylated Gb3 isoforms might be helpful urinary biomarkers for Fabry patients with late-onset cardiac variant mutations.
Keywords
MTBEα-Gal AREBLyso-Gb3OMIMHQCCThCHUSMRMCentre Hospitalier Universitaire de Sherbrookeceramide trihexosideLQCGa2CDHUPLC–MS/MSα-Galactosidase Aenzyme replacement therapyinternal standardFabry diseaseceramide dihexosideTandem mass spectrometryMethanolmethyl tert-Butyl etherMeOHmultiple reaction monitoringERTResearch ethics boardOnline Mendelian Inheritance in Manhigh quality controllow quality controlGlobotriaosylsphingosineglobotriaosylceramide
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Mona Abaoui, Michel Boutin, Pamela Lavoie, Christiane Auray-Blais,