Results 31 to 40 of about 57,841 (208)

Potential Pathogenetic Role of the D313Y Mutation in the <i>GLA</i> Gene in Anderson Fabry Disease: Two Case Reports. [PDF]

Int J Mol Sci
Anderson Fabry disease (AFD) is an X-linked hereditary lysosomal abnormality that causes the accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and a shortened life span. More than 1000 mutations in the GLA
La Russa A, Siniscalchi A, Bonaventura A, Di Noia D, Valsania T, Stallone G, Tartaglia L, Chiapparino C, Di Rienzo G, Coppolino G, Bolignano D, Faga T, Michael A, Montesanto A, Serra R, Andreucci M.   +15 more
europepmc   +2 more sources

Amyloid and Anderson-Fabry disease: Can there be a CMR phenotypic overlap? [PDF]

J Cardiol Cases
Alnaimat S, Mascara M, Maharjan S, Naser A, Ivanova V, Shah M, Biederman RWW.   +6 more
europepmc   +2 more sources

The Identification of a Novel Pathogenic Variant of the <i>GLA</i> Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study. [PDF]

Int J Mol Sci
Anderson–Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by a functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect of this lysosomal enzyme, which is caused by variants in the GLA gene, leads to the ...
Giacalone I, Ruzzi L, Anania M, Cuonzo M, Marsana EM, Mastrippolito S, Francofonte D, Bucco S, D'Errico A, Longo MO, Zizzo C, Iarlori L, Duro G, Colomba P.   +13 more
europepmc   +2 more sources

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

Int J Mol Sci, 2023
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.
Tuttolomondo A, Baglio I, Riolo R, Todaro F, Parrinello G, Miceli S, Simonetta I.   +6 more
europepmc   +2 more sources

Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease [PDF]

Frontiers in Genetics
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +2 more sources

Anderson-Fabry Disease [PDF]

Journal of the American Society of Nephrology, 2002
The advent of enzyme replacement therapy for Anderson-Fabry disease (AFD) adds impetus for the early detection of patients with this inherited multiorgan lipid storage disease. The resultant accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell ...
Edwin H, Kolodny, Gregory M, Pastores
openaire   +2 more sources

Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso

Nefrología, 2023
Resumen: La enfermedad de Fabry o también llamada de Anderson-Fabry (EF) es una enfermedad rara, causada por variantes patogénicas en el gen GLA, localizado en el cromosoma X.
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells   +5 more
doaj   +1 more source

Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report

Nefrología (English Edition), 2023
Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome.
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells   +5 more
doaj   +1 more source

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease. [PDF]

Int J Mol Sci
Anderson–Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA).
Anania M, Pieruzzi F, Giacalone I, Trezzi B, Marsana EM, Roggero L, Francofonte D, Stefanoni M, Vinci M, Zizzo C, Zora M, Di Chiara T, Duro G, Duro G, Colomba P.   +14 more
europepmc   +2 more sources

Exosomal miRNAs as Biomarkers of Ischemic Stroke

Brain Sciences, 2023
Exosomes are small lipid bilayer membrane particles released from all living cells into the extracellular environment. They carry several molecules and have a critical role in cell–cell communication under physiological and pathological conditions.
Anna Maria Ciaccio, Antonino Tuttolomondo   +1 more
doaj   +1 more source