Detalles de la búsqueda
1.
Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.
Int J Mol Sci
; 24(4)2023 Feb 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36834643
2.
Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1.
J Proteome Res
; 21(5): 1321-1329, 2022 05 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35349295
3.
Vitamin B-12 Intake from Dairy but Not Meat Is Associated with Decreased Risk of Low Vitamin B-12 Status and Deficiency in Older Adults from Quebec, Canada.
J Nutr
; 152(11): 2483-2492, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36774114
4.
Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort.
J Med Genet
; 58(10): 692-700, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32963035
5.
Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model.
J Lipid Res
; 61(11): 1410-1423, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32868283
6.
Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy.
J Med Genet
; 56(8): 548-556, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31010832
7.
Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.
Int J Mol Sci
; 21(21)2020 Oct 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-33114153
8.
Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.
Int J Mol Sci
; 21(17)2020 Aug 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-32854306
9.
The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein.
Neurobiol Dis
; 110: 68-81, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29196214
10.
Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease.
J Inherit Metab Dis
; 41(2): 239-247, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29294190
11.
Separation and Analysis of Lactosylceramide, Galabiosylceramide, and Globotriaosylceramide by LC-MS/MS in Urine of Fabry Disease Patients.
Anal Chem
; 89(24): 13382-13390, 2017 12 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-29099167
12.
Effects of Orally Delivered Alpha-Galactosidase A on Gastrointestinal Symptoms in Patients With Fabry Disease.
Gastroenterology
; 159(4): 1602-1604, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32534932
13.
Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease.
Anal Chem
; 88(3): 1856-63, 2016 Feb 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-26735924
14.
Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb3-related analogues in Fabry disease.
Anal Chem
; 86(7): 3476-83, 2014 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24634980
15.
Quantitative proteomics profiling of the poly(ADP-ribose)-related response to genotoxic stress.
Nucleic Acids Res
; 40(16): 7788-805, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22669911
16.
Multiplex analysis of novel urinary lyso-Gb3-related biomarkers for Fabry disease by tandem mass spectrometry.
Anal Chem
; 85(3): 1743-52, 2013 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-23248976
17.
A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients.
Anal Chem
; 85(19): 9039-48, 2013 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23968398
18.
Multiplex Quantification of Plasma Biomarkers for Patients with Gaucher Disease Type 1.
Curr Protoc
; 3(2): e696, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-36802221
19.
Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics.
Anal Chem
; 84(6): 2745-53, 2012 Mar 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-22309310
20.
Methylmalonic acid analysis using urine filter paper samples to screen for metabolic vitamin B12 deficiency in older adults.
Bioanalysis
; 14(9): 615-626, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35546317