Results 81 to 90 of about 46,559 (266)
Clinical and Experimental Gastroenterology, 2015 Francesco Di Pierro,1 Alexander Bertuccioli,2 Eleonora Marini,3 Leandro Ivaldi4 1Velleja Research, Milan, Italy; 2Italian Association Fitness and Medicine, Fano, PU, Italy; 3Pharmextracta, Pontenure, Piacenza, Italy; 4Digestive Endoscopic Department ...
Di Pierro F +3 more
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Diagnóstico y tratamiento de la enfermedad de Fabry [PDF]
, 2017 El texto en español se encuentra disponibe en http://doi.org/10.1016/j.medcli.2016.09.047This work was supported by FIS PI13/00047, PI15/00298, CP14/00133, FEDER funds ISCIII-RETIC REDinREN RD12/0021 and RD16/0009, Sociedad Española de Nefrología ...
Ortiz, Alberto +1 more
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Biochemical characterization of the enzyme a-galactosidase from Saccharomyces cerevisiae and its mutant R412L [PDF]
, 2013 Traballo fin de mestrado (UDC.CIE). Biotecnoloxía avanzada.
Escuder-Rodríguez, Juan-José
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Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation
Journal of Inborn Errors of Metabolism and Screening, 2014 Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and ...
Nilton Salles Rosa Neto MD, PhD
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Orphanet Journal of Rare Diseases, 2010 Background The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficult tissues and have low cost ...
Correra Antonella +4 more
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Fabry disease: will markers of early disease enable early treatment and better outcomes? [PDF]
, 2016 PURPOSE OF REVIEW: This review explores the clinical and pathological features of Fabry disease. New modalities of imaging, biomarkers and long-term treatment effects are discussed. RECENT FINDINGS: Fabry disease is clinically heterogeneous, and in women
Hughes, DA
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Biomaterial design strategies for enhancing mitochondrial transplantation therapy
BMEMat, EarlyView.Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang +12 more
wiley +1 more source
Turkish Journal of Internal Medicine, 2020 Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
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Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease [PDF]
, 2017 Background Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene. Deficiency of α-galactosidase A (α-Gal A) causes intracellular accumulations of globotriaosylceramide (GL-3) and related glycosphingolipids in all ...
Bibby, Bo M. +7 more
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Архивъ внутренней медицины, 2013 This article is an analysis of the clinical case of differential diagnosis of Fabry disease. Pecular symptoms and the principles of diagnosis of Fabry disease, as well as current treatment options for this disease are presented.
Г. П. Арутюнов +1 more
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