Cargando…

Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study

Single nucleotide polymorphisms (SNPs) in the alpha-galactosidase A gene region (GLA) have been discussed as potential cause of symptoms and organ manifestations similarly to those seen in Fabry disease (FD). However, due to scarce data, clinical implications remain limited. The aim of the present s...

Descripción completa

Detalles Bibliográficos
Autores principales:	Oder, Daniel, Liu, Dan, Üçeyler, Nurcan, Sommer, Claudia, Hu, Kai, Salinger, Tim, Müntze, Jonas, Petritsch, Bernhard, Ertl, Georg, Wanner, Christoph, Nordbeck, Peter, Weidemann, Frank
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392711/ https://www.ncbi.nlm.nih.gov/pubmed/29794742 http://dx.doi.org/10.1097/MD.0000000000010669

Ejemplares similares

Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y
por: Oder, Daniel, et al.
Publicado: (2016)

Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles
por: Oder, Daniel, et al.
Publicado: (2016)

Association and diagnostic utility of diastolic dysfunction and myocardial fibrosis in patients with Fabry disease
por: Liu, Dan, et al.
Publicado: (2018)

Value of the CHA(2)DS(2)-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation
por: Liu, Dan, et al.
Publicado: (2018)

Association between Comorbidities and Progression of Transvalvular Pressure Gradients in Patients with Moderate and Severe Aortic Valve Stenosis
por: Salinger, Tim, et al.
Publicado: (2018)

Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy
por: Müntze, Jonas, et al.
Publicado: (2018)

Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease
por: Hofmann, Lukas, et al.
Publicado: (2017)

Impella CP use in patients with non‐ischaemic cardiogenic shock
por: Maniuc, Octavian, et al.
Publicado: (2019)

Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development
por: Üçeyler, Nurcan, et al.
Publicado: (2016)

Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease
por: Köping, Maria, et al.
Publicado: (2017)

X‐chromosomal inactivation patterns in women with Fabry disease
por: Wagenhäuser, Laura, et al.
Publicado: (2022)

Characterization of vertigo and hearing loss in patients with Fabry disease
por: Köping, Maria, et al.
Publicado: (2018)

Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year
por: Müntze, Jonas, et al.
Publicado: (2019)

Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease
por: Üçeyler, Nurcan, et al.
Publicado: (2016)

Response to “Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real‐World Data”
por: Müntze, Jonas, et al.
Publicado: (2019)

Hot topics in Fabry disease
por: Cairns, Tereza, et al.
Publicado: (2018)

Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)
por: Lau, Kolja, et al.
Publicado: (2022)

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
por: Lenders, Malte, et al.
Publicado: (2016)

Long‐term outcome after surgical repair of a rapid‐grown ischemic ventricular aneurysm causing ventricular tachycardia
por: Gensler, Daniel, et al.
Publicado: (2019)

Cardiac amyloidosis mimicking severe aortic valve stenosis – a case report demonstrating diagnostic pitfalls and role of dobutamine stress echocardiography
por: Salinger, Tim, et al.
Publicado: (2017)

Increased Arterial Diameters in the Posterior Cerebral Circulation in Men with Fabry Disease
por: Üçeyler, Nurcan, et al.
Publicado: (2014)

Contrast-enhanced ultrasound for non-invasive differential diagnosis of unclear left atrial mass
por: Christa, Martin, et al.
Publicado: (2023)

Impaired small fiber conduction in patients with Fabry disease: a neurophysiological case–control study
por: Üçeyler, Nurcan, et al.
Publicado: (2013)

Longitudinal strain bull’s eye plot patterns in patients with cardiomyopathy and concentric left ventricular hypertrophy
por: Liu, Dan, et al.
Publicado: (2016)

Identification of Single Nucleotide Polymorphisms Associated with Hyperproduction of Alpha-Toxin in Staphylococcus aureus
por: Liang, Xudong, et al.
Publicado: (2011)

Single-Nucleotide Polymorphism Masking
por: Walter, Nicole A.R., et al.
Publicado: (2008)

The Application and Performance of Single Nucleotide Polymorphism Markers for Population Genetic Analyses of Lepidoptera
por: Coates, Brad Steven, et al.
Publicado: (2011)

High Throughput Screening for Inhibitors of Alpha-Galactosidase
por: Motabar, Omid, et al.
Publicado: (2010)

Bioconversion of Beet Molasses to Alpha-Galactosidase and Ethanol
por: Álvarez-Cao, María-Efigenia, et al.
Publicado: (2019)

High‐Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease
por: Seydelmann, Nora, et al.
Publicado: (2016)

Picking single-nucleotide polymorphisms in forests
por: Schwarz, Daniel F, et al.
Publicado: (2007)

Single nucleotide polymorphisms and cancer susceptibility
por: Deng, Na, et al.
Publicado: (2017)

Value of low-dose dobutamine stress echocardiography on defining true severe low gradient aortic stenosis in patients with preserved left ventricular ejection fraction
por: Liu, Dan, et al.
Publicado: (2018)

Value of tissue Doppler-derived Tei index and two-dimensional speckle tracking imaging derived longitudinal strain on predicting outcome of patients with light-chain cardiac amyloidosis
por: Liu, Dan, et al.
Publicado: (2017)

High-Dose Capsaicin for the Treatment of Neuropathic Pain: What We Know and What We Need to Know
por: Üçeyler, Nurcan, et al.
Publicado: (2014)

Single Nucleotide Polymorphism Genotyping in Single‐Molecule Electronic Circuits
por: He, Gen, et al.
Publicado: (2017)

Echocardiographic risk factors of left ventricular thrombus in patients with acute anterior myocardial infarction
por: Chen, Mengjia, et al.
Publicado: (2021)

MSProGene: integrative proteogenomics beyond six-frames and single nucleotide polymorphisms
por: Zickmann, Franziska, et al.
Publicado: (2015)

Discovery of Single Nucleotide Polymorphisms and Mutations by Pyrosequencing
por: Ronaghi, Mostafa, et al.
Publicado: (2002)

Empirical Bayes analysis of single nucleotide polymorphisms
por: Schwender, Holger, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_iipah2iubbt221l6ocnrk7varm