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.
ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species.
J Lipid Res
; 62: 100128, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34597626
6.
Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease.
Genet Med
; 23(1): 192-201, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32994552
7.
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
8.
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
9.
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
10.
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
11.
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
J Inherit Metab Dis
; 42(1): 107-116, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740739
12.
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
13.
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
J Inherit Metab Dis
; 41(3): 457-477, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29556840
14.
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
15.
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
16.
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
17.
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
18.
Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease.
Genet Med
; 23(1): 238, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-33219325
19.
Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples.
Clin Chem
; 62(1): 279-86, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26585924
20.
Assessment of urinary metabolite excretion after rat acute exposure to perfluorooctanoic acid and other peroxisomal proliferators.
Arch Environ Contam Toxicol
; 68(1): 148-58, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25015730