Results 131 to 140 of about 3,683 (169)

Risk of Death in Heart Disease is Associated With Elevated Urinary Globotriaosylceramide [PDF]

Journal of the American Heart Association, 2014
Background Elevated urinary globotriaosylceramide (Gb 3 ) has been considered a hallmark of F abry disease, an X‐linked lysosomal disorder that is a risk factor for most types of heart disease.
Maria Fuller, Brian Lowes, Xuan Wang
exaly   +4 more sources

Some of the next articles are maybe not open access.

Related searches:

Increased globotriaosylceramide in familial dysautonomia

Lipids, 1992
AbstractFamilial Dysautonomia (FD) is an autosomal recessive disease of unknown etiology, occurring primarily in Ashkenazi Jews. Patients are neurologically impaired, with deficits primarily in autonomic and sensory functions. The biochemical and genetic defects have remained elusive, precluding carrier detection and prenatal diagnosis.
P, Strasberg, H, Yeger, I, Warren
openaire   +2 more sources

Comparison of detection methods for cell surface globotriaosylceramide

Journal of Immunological Methods, 2011
The cell surface-expressed glycosphingolipid (GSL), globotriaosylceramide (Gb(3)), is becoming increasingly important and is widely studied in the areas of verotoxin (VT)-mediated cytotoxicity, human immunodeficiency virus (HIV) infection, immunology and cancer. However, despite its diverse roles and implications, an optimized detection method for cell
Minji, Kim, Beth, Binnington, Darinka, Sakac, Kimberly R, Fernandes, Sheryl P, Shi, Clifford A, Lingwood, Donald R, Branch   +6 more
openaire   +2 more sources

Is globotriaosylceramide a useful biomarker in Fabry disease?

Acta Paediatrica, International Journal of Paediatrics, 2005
Abstract Aim: The aim of this study was to determine whether globotriaosylceramide (Gb3) is a useful biomarker in Fabry disease. Methods: The levels of Gb3 were measured in plasma and urine by tandem mass spectrometry in untreated hemizygotes and heterozygotes with Fabry disease and in healthy controls, and the levels were monitored in patients on ...
E, Young, K, Mills, P, Morris, A, Vellodi, P, Lee, S, Waldek, B, Winchester   +6 more
exaly   +3 more sources

Cellular and tissue localization of globotriaosylceramide in Fabry disease

Virchows Archiv, 2007
The pathogenesis of Fabry disease is poorly understood. We used a variety of immunohistological techniques to localize globotriaosylceramide, the main glycolipid that accumulates in Fabry disease. Globotriaosylceramide immunoreactivity in a heterogenous pattern was present in all organs examined of a patient on long-term enzyme replacement therapy.
Hasan, Askari, Christine R, Kaneski, Cristina, Semino-Mora, Priya, Desai, Agnes, Ang, David E, Kleiner, Lorah T, Perlee, Martha, Quezado, Linda E, Spollen, Brandon A, Wustman, Raphael, Schiffmann   +10 more
openaire   +2 more sources

Total synthesis of globotriaosylceramide (Gb3) and lysoglobotriaosylceramide (lysoGb3)

Carbohydrate Research, 1990
We have recently reported a highly efficient and stereocontrolled synthesis of globotriaosylceramide (Gb3, 1) in optically pure form. Key to our synthetic strategy was the implementation of the two-stage activation of thioglycosides for formation of the glycosidic bonds and the utilization of (2S, 3S, 4E)-2-azido-3-O-(tert-butyldimethylsilyl)-4 ...
K C, Nicolaou, T J, Caulfield, H, Katoaka   +2 more
openaire   +2 more sources

Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease

Molecular Genetics and Metabolism, 2011
Fabry disease is caused by a deficiency of α-galactosidase A (α-Gal A), which results in the accumulation of globotriaosylceramide (GL3) and related glycosphingolipids in different organs. Urinary GL3 levels increase in symptomatic Fabry disease patients, but it is not clear whether urinary GL3 excretion also increases in young or pre-symptomatic ...
Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee   +2 more
exaly   +3 more sources

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Heart, 2014
Objective To characterise a globotriaosylceramide (Gb3) storage cardiomyopathy mimicking Fabry. Methods We investigated five patients from two unrelated families with early adult onset unexplained left ventricular hypertrophy.
Turid, Apelland, Einar, Gude, Erik H, Strøm, Lars, Gullestad, Kristin L, Eiklid, Jan-Eric, Månsson, Finn P, Reinholt, Gunnar, Houge, Christen P, Dahl, Vibeke M, Almaas, Arvid, Heiberg   +10 more
openaire   +2 more sources

Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3)

Molecular Genetics and Metabolism, 2009
and C17-Gb3 as internal standards. Ten microliters are injected into a UPLC-MS/MS for the simultaneous determination of creatinine and Gb3. Urine of 100 healthy subjects from newborns to 65 years old was analyzed. The concentration of creatinine in urine varied widely due to diet or age: from less then 1 lmol/mL in infants and some adults to higher ...
Sabrina, Forni, Xiaowei, Fu, Raphael, Schiffmann, Lawrence, Sweetman   +3 more
openaire   +2 more sources

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

Molecular Genetics and Metabolism, 2008
Fabry disease is a complex, multisystemic and clinically heterogeneous disease, in which the urinary excretion of globotriaosylceramide (Gb3), the principal substrate of the deficient enzyme, alpha-galactosidase A, is more prominent than the increased concentrations of the lipid in the plasma of affected hemizygotes and heterozygotes. We have developed
, Christiane Auray-Blais, Tracy Stockley   +2 more
exaly   +3 more sources