Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

Item
http://www.wikidata.org/entity/Q57375536
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients.Cross-Classification of Human Urinary Lipidome by Sex, Age, and Body Mass Index.Ceramide sphingolipid signaling mediates Tumor Necrosis Factor (TNF)-dependent toxicity via caspase signaling in dopaminergic neurons.Differential human urinary lipid profiles using various lipid-extraction protocols: MALDI-TOF and LIFT-TOF/TOF analysesGlycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.Practical metabolomics in drug discovery.Is it Fabry disease?Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.Urine-derived cells: a promising diagnostic tool in Fabry disease patients
P2860

Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

Item
http://www.wikidata.org/entity/Q57375536
description
im Februar 2005 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 03 February 2005
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в лютому 2005
@uk
name
Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes
@en
Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes
@nl
type
label
Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes
@en
Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes
@nl
prefLabel
Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes
@en
Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes
@en
P2093
P304
P31
P356
10.1373/CLINCHEM.2004.041418
P407
P433
P478
P50
P577
P698