Results 41 to 50 of about 1,141 (92)

Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report

Frontiers in Medicine
Fabry disease (FD) is an X-linked disorder resulting in a deficiency of α-galactosidase A (GLA) activity. The R112H mutation of GLA is relatively common in Japanese FD patients, characterized by a late-onset phenotype, almost normal to mild lyso-Gb3 ...
Keiko Tanaka, Hitoshi Sugiyama, Hitoshi Sugiyama, Hiroshi Morinaga, Akifumi Onishi, Katsuyuki Tanabe, Haruhito A. Uchida, Hiroki Maruyama, Hiroki Maruyama, Jun Wada   +9 more
doaj   +1 more source

Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease

International Journal of Nephrology, 2017
Background. Despite enzyme replacement therapy, Fabry nephropathy still progresses. Podocyturia is an irreversible event that antedates proteinuria and leads to chronic renal failure.
Hernán Trimarchi, Romina Canzonieri, Amalia Schiel, Juan Politei, Cristian Costales-Collaguazo, Aníbal Stern, Matías Paulero, Tatiana Rengel, Lara Valiño-Rivas, Mariano Forrester, Fernando Lombi, Vanesa Pomeranz, Romina Iriarte, Alexis Muryan, Alberto Ortiz, María Dolores Sanchez-Niño, Elsa Zotta   +16 more
doaj   +1 more source

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene

Molecular Genetics and Metabolism Reports, 2019
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A). The clinical variability of the phenotypes of Fabry disease in females is still poorly understood.
Mohammad Arif Hossain, Chen Wu, Hiroko Yanagisawa, Takashi Miyajima, Keiko Akiyama, Yoshikatsu Eto   +5 more
doaj   +1 more source

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs

Frontiers in Cardiovascular Medicine
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment.
Antonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, Maurizio Gallieni, Chiara Lanzillo, Antonella La Russa, Giuseppe Limongelli, Renzo Mignani, Renzo Mignani, Iacopo Olivotto, Federico Pieruzzi, Federico Pieruzzi, Antonio Pisani   +12 more
doaj   +1 more source

Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy

Cells
Fabry disease (FD) is a lysosomal disorder due to alpha-galactosidase-A enzyme deficiency, accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) which lead to proinflammatory effects.
Margarita M. Ivanova, Julia Dao, Andrew Friedman, Neil Kasaci, Ozlem Goker-Alpan   +4 more
doaj   +1 more source

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study

Molecular Genetics & Genomic Medicine, 2019
Background Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants. The GLA gene variant c.352C>T/p.Arg118Cys was considered with uncertain pathogenicity because of the finding of high residual alpha‐galactosidase A (α‐
Magdalena Cerón‐Rodríguez, Guillermo Ramón‐García, Edgar Barajas‐Colón, Isidro Franco‐Álvarez, Juan L. Salgado‐Loza   +4 more
doaj   +1 more source

Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy

Frontiers in Immunology
Defective α-galactosidase A (AGAL/GLA) due to missense or nonsense mutations in the GLA gene results in accumulation of the glycosphingolipids globotriaosylceramide (Gb3) and its deacylated derivate globotriaosylsphingosine (lyso-Gb3) in cells and body ...
Björn Laffer, Malte Lenders, Elvira Ehlers-Jeske, Karin Heidenreich, Eva Brand, Jörg Köhl, Jörg Köhl   +6 more
doaj   +1 more source

Insights of Fabry disease: Expert consensus approach for screening, diagnosis, and multidisciplinary management in chronic kidney disease

Journal of the Formosan Medical Association
The prevalence of Fabry disease (FD) among males with chronic kidney disease (CKD) of unknown etiology in Taiwan is 0.6%. Despite this, FD is frequently overlooked in clinical settings.
Cheng-Jui Lin, Feng-Jung Yang, Chih-Jen Wu, Ming-Ju Wu, Mai-Szu Wu   +4 more
doaj   +1 more source

Nuovi marcatori

Giornale di Clinica Nefrologia e Dialisi, 2017
non ...
Giuseppe Cammarata
doaj  

Lyso-Gb3 Increases αvβ3 Integrin Gene Expression in Cultured Human Podocytes in Fabry Nephropathy. [PDF]

J Clin Med, 2020
Trimarchi H, Ortiz A, Sánchez-Niño MD.
europepmc   +1 more source