Results 121 to 130 of about 3,830 (166)

This ECG Does Not Fit: Rethinking Left Ventricular Hypertrophy. [PDF]

JACC Case Rep
Perini Schweiger C, Allocca G, Gugelmo G, Lenzini L, Cipriani A, Perazzolo Marra M, Corrado D, Vitturi N, Carraro G, De Michieli L.   +9 more
europepmc   +1 more source

Nucleoside-Modified mRNA Encoding Alpha-Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC-Derived Cardiomyocytes. [PDF]

Adv Sci (Weinh)
Juchem M, Oehlsen L, Ersoy S, Ye JL, Weber N, Mohr E, Agyapong W, Liu J, Fuchs M, Xiao K, Jahn C, Eggenschwiler R, Cantz T, Beimdiek J, Buettner FFR, Kraft T, Hegermann J, Knorr IJ, Ernst L, Feldbrügge L, Puffert R, Schmidt K, Bär C, Hoepfner J, Thum T.   +24 more
europepmc   +1 more source

Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development. [PDF]

Front Pharmacol
Gómez-Cebrián N, Trull MC, Gras-Colomer E, Edo Solsona MD, Poveda Andrés JL, Puchades-Carrasco L.   +5 more
europepmc   +1 more source

Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response. [PDF]

J Am Soc Nephrol
Živná M, Živná M, Dostálová G, Barešová V, Mušálková D, Svojšová K, Meiseles D, Kinstlinger S, Kuchař L, Asfaw B, Poupětová H, Vlášková H, Kmochová T, Vyleťal P, Hartmannová H, Hodaňová K, Stránecký V, Steiner-Mrázová L, Hnízda A, Živný J, Radina M, Votruba M, Sovová J, Trešlová H, Stolnaja L, Reková P, Roblová L, Honsová E, Rychlík I, Dvela-Levitt M, Bleyer AJ, Linhart A, Sikora J, Kmoch S.   +33 more
europepmc   +1 more source

The Role of Kidney Biopsy in Fabry Disease. [PDF]

Biomedicines
Capelli I, Martano L, Berti GM, Vischini G, Lerario S, Donadio V, Incensi A, Aiello V, Ciurli F, Fabbrizio B, Chilotti S, Mignani R, Pasquinelli G, La Manna G.   +13 more
europepmc   +1 more source

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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 ...
Bryan Winchester, S Waldek, A Vellodi
exaly   +3 more sources

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 D. Lowes, Paul Grayburn   +2 more
exaly   +4 more sources

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