Results 101 to 110 of about 7,450 (200)

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. [PDF]

, 2017
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A.
Colomba P, Corpora F, DAIDONE, Mario, Della Corte V, Di Chiara T, Duro G, Miceli S, Nucera A, Pecoraro R, Pinto A., Scaglione R, Simonetta I, Tuttolomondo A, VOGIATZIS, Danai, Zizzo C   +14 more
core   +1 more source

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

Severe Aortopathy Caused by Fabry Disease

Annals of Internal Medicine: Clinical Cases
The involvement of the aorta in Fabry disease (FD) is not uncommon, but the need for a surgical intervention and description of its potential results are rare. Pathology of the affected aortic wall is still unavailable. We report severe aortopathy caused
Andrea Frustaci, Ruggero de Paulis, Nicola Galea, Matteo Antonio Russo, Luigi Sansone, Manuel Belli, Aurora Polvani, Romina Verardo   +7 more
doaj   +1 more source

Enterohemorrhagic Escherichia coli with particular attention to the German outbreak strain O104:H4 [PDF]

, 2012
This review deals with the epidemiology and ecology of enterohemorrhagic Escherichia coli (EHEC), a subset of the verocytotoxigenic Escherichia coli (VTEC), and subsequently discusses its public health concern.
De Reu, K, De Zutter, Lieven, Joris, Adelheid, Vanrompay, Daisy, Verstraete, K   +4 more
core   +1 more source

Enterohemorrhagic Escherichia coli colonization of human colonic epithelium in vitro and ex vivo [PDF]

, 2015
Enterohemorrhagic E. coli (EHEC) are important foodborne pathogens causing gastroenteritis and more severe complications such as hemorrhagic colitis and hemolytic uremic syndrome.
B. A. McCormick, Richard Tighe, Stephanie Schüller, Steven B. Lewis, Vivienne Cook   +4 more
core   +1 more source

Imaging predictors of adverse prognosis in Fabry disease cardiomyopathy: A systematic review and meta‐analysis

European Journal of Clinical Investigation, Volume 55, Issue 5, May 2025.
In this systematic review and meta‐analysis assessing the prognostic relevance of cardiac imaging parameters on adverse outcomes in patients with Fabry disease, we found that late gadolinium enhancement, left atrium volume indexed, E/e′ ratio, left ventricular (LV) mass indexed, maximum LV wall thickness and LV‐global longitudinal strain were ...
Kamil Stankowski, Stefano Figliozzi, Thanakorn Rojanathagoon, Dimitrios Bampatsias, Dimitrios Klettas, Lorenzo Monti, Renato Bragato, Pier‐Giorgio Masci, Marco Francone, Gianluigi Condorelli, Massimo Imbriaco, Maurizio Pieroni, Antonia Camporeale, Georgios Georgiopoulos   +13 more
wiley   +1 more source

In vitro effect of globotriaosylceramide on electron transport chain complexes and redox parameters

Anais da Academia Brasileira de Ciências
: Fabry disease (FD) is an X-linked inherited disease and occurs due to mutations in GLA gene that encodes the α-galactosidase enzyme. Consequently, there is an accumulation of enzyme substrates, namely globotriaosylceramide (GB3).
RAFAELA M. ALVARIZ, ISABEL T.D.S. MOREIRA, GABRIELA K. CURY, CARMEN R. VARGAS, ALETHÉA G. BARSCHAK   +4 more
doaj   +1 more source

Role of the Shiga toxin in the Hemolytic Uremic Syndrome [PDF]

, 2006
En los últimos años, las infecciones por Escherichia coli productor de toxina Shiga (STEC) y el desarrollo del Síndrome Urémico Hemolítico (SUH) han cobrado tal relevancia desde el punto de vista clínico y como problema de salud pública, que se considera
Boccoli, Javier, Goldstein, Jorge, Ibarra, Cristina, Nuñez, Pablo, Pistone Creydt, Virginia, Silberstein, Claudia Marcela, Zotta, Elsa   +6 more
core  

Imbalanced Production of Reactive Oxygen Species and Mitochondrial Antioxidant SOD2 in Fabry Disease-Specific Human Induced Pluripotent Stem Cell-Differentiated Vascular Endothelial Cells

Cell Transplantation, 2017
Fabry disease (FD) is an X-linked inherited lysosomal storage disease caused by α-galactosidase A (GLA) deficiency. Progressive intracellular accumulation of globotriaosylceramide (Gb3) is considered to be pathogenically responsible for the phenotype ...
Wei-Lien Tseng, Shih-Jie Chou, Huai-Chih Chiang, Mong-Lien Wang, Chian-Shiu Chien, Kuan-Hsuan Chen, Hsin-Bang Leu, Chien-Ying Wang, Yuh-Lih Chang, Yung-Yang Liu, Yuh-Jyh Jong, Shinn-Zong Lin, Shih-Hwa Chiou, Shing-Jong Lin, Wen-Chung Yu   +14 more
doaj   +1 more source

Gb3‐cSrc complex in glycosphingolipid‐enriched microdomains contributes to the expression of p53 mutant protein and cancer drug resistance via β‐catenin–activated RNA methylation

FASEB BioAdvances, 2020
Glucosylceramide synthase (GCS) is a key enzyme catalyzing ceramide glycosylation to generate glucosylceramide (GlcCer), which in turn serves as the precursor for cells to produce glycosphingolipids (GSLs).
Kartik R. Roy, Mohammad B. Uddin, Sagor C. Roy, Ronald A. Hill, John Marshall, Yu‐Teh Li, Jean Christopher Chamcheu, Hua Lu, Yong‐Yu Liu   +8 more
doaj   +1 more source