Results 121 to 130 of about 2,063 (198)

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

Ein Vergleich zwischen der nach dem FASTEX berechneten und der mit dem Lyso-GB3 gemessenen Krankheitsstabilität bei Morbus Fabry [PDF]

, 2020
Fabry Disease is an X-linked recessive hereditary disease, which is one of the lysosomal storage diseases. Due to the low incidence, the varying degrees of involvement of various organs and the very wide variety of symptoms, both diagnosis and therapy are a challenge.
openaire   +1 more source

La malattia di Anderson-Fabry. Conclusioni

Giornale di Clinica Nefrologia e Dialisi, 2017
non disponibile (aiaf)
Giovanni Duro, Marco Lombardi
doaj   +1 more source

Decision letter for "Accuracy diagnosis improvement of Fabry disease from dried blood spots: enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing"

, 2021

openalex   +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

Nuovi marcatori

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

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

Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson–Fabry Disease [PDF]

Fabry disease (FD) is a recessive monogenic disease linked to chromosome X due to more than two hundred mutations in the alfa-galactosidase A (GLA) gene.
Baglio I., Miceli S., Parrinello G., Riolo R., Simonetta I., Todaro F., Tuttolomondo A.   +6 more
core   +1 more source