Results 21 to 30 of about 957 (152)

Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease [PDF]

Journal of Nephropathology, 2015
Background: The existence of membranous cytoplasmic bodies in biopsied kidney tissues is one of the important findings when considering Fabry disease as the first choice diagnosis.
Hitoshi Sakuraba, Takahiro Tsukimura, Toshie Tanaka, Tadayasu Togawa, Naoki Takahashi, Daisuke Mikami, Sachiko Wakai, Yasuhiro Akai   +7 more
doaj   +1 more source

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots [PDF]

Annals of Laboratory Medicine, 2013
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be analyzed in dried blood spots (DBS) from filter cards and whether concentrations are elevated in newborn infants with FD.
Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A   +9 more
openaire   +2 more sources

Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model

Journal of Lipid Research, 2020
Fabry disease is caused by deficient activity of α-galactosidase A, an enzyme that hydrolyzes the terminal α-galactosyl moieties from glycolipids and glycoproteins, and subsequent accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3 ...
Siamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S. Day, Mouna Taroua, Raphael Schiffmann, Christiane Auray-Blais, Jin-Song Shen   +6 more
doaj   +1 more source

Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy [PDF]

Nephrology Dialysis Transplantation, 2010
Transforming growth factor-β1 (TGF-β1) and the macrophage inhibitory factor receptor CD74 link the metabolic disorder with tissue injury in diabetic nephropathy. Fabry disease is an X-linked lysosomal glycosphingolipid storage disorder resulting from a deficient activity of α-galactosidase A that leads to proteinuric renal injury.
Sanchez-Nino, MD, Sanz, AB, Carrasco, S, Saleem, MA, Mathieson, PW, Valdivielso, JM, Ruiz-Ortega, M, Egido, J, Ortiz, A   +8 more
openaire   +4 more sources

Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses

Diagnostics, 2020
Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders associated with impaired glycosaminoglycans (GAGs) catabolism. In MPS I, II, III, and VII, heparan sulfate (HS) cannot be degraded because of the lack of sufficient activity of the ...
Galina Baydakova, Alex Ilyushkina, Lidia Gaffke, Karolina Pierzynowska, Igor Bychkov, Agnieszka Ługowska, Grzegorz Wegrzyn, Anna Tylki-Szymanska, Ekaterina Zakharova   +8 more
doaj   +1 more source

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy. [PDF]

PLoS ONE, 2016
Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has ...
Bianca T A de Greef, Janneke G J Hoeijmakers, Emma E Wolters, Hubertus J M Smeets, Arthur van den Wijngaard, Ingemar S J Merkies, Catharina G Faber, Monique M Gerrits   +7 more
doaj   +1 more source

Progress in Diagnosis and Treatment of Children having Fabry Disease

罕见病研究, 2022
Fabry disease (FD) is a rare progressive X-linked genetic lysosomal storage disorder. Mutations of the GLA gene result in deficiency of α-galactosidase (α-Gal A), and the accumulation of glycosphingolipids, particularly globotriaosylceramide (GL-3) and ...
LI Xiaoxue, LIU Xiaorong
doaj   +1 more source

Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives

Journal of Inborn Errors of Metabolism and Screening, 2022
Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management.
Roberto Giugliani, Sandra Marques, Luis G. M. de Andrade, André Pessoa, Maria H. Vaisbich, Angélica Blum, Fernanda Tenório, Nilton S Rosa Neto   +7 more
doaj   +1 more source

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

Journal of Medical Genetics, 2015
Background Fabry disease (FD), a lysosomal storage disorder caused by α-galactosidase A (GLA) gene variants, has a heterogeneous phenotype. GLA variants can lead to classical FD, an attenuated non-classical phenotype, or no disease at all. This study investigates the value of plasma globotriaosylsphingosine (lysoGb3)
Smid, Bouwien E., van der Tol, Linda, Biegstraaten, Marieke, Linthorst, Gabor E., Hollak, Carla E. M., Poorthuis, Ben J. H. M.   +5 more
openaire   +3 more sources

Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
Background Because systemic inflammation and endothelial dysfunction lead to heart failure with preserved ejection fraction, we characterized plasma levels of inflammatory and cardiac remodeling biomarkers in patients with Fabry disease (FD). Methods and
Haran Yogasundaram, Anish Nikhanj, Brendan N. Putko, Michel Boutin, Shailly Jain‐Ghai, Aneal Khan, Christiane Auray‐Blais, Michael L. West, Gavin Y. Oudit   +8 more
doaj   +1 more source