Results 11 to 20 of about 4,628 (142)

p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease

Anatolian Journal of Cardiology, 2022
Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity.
Hasan Ali Barman, Adem Atıcı, Serhan Özyıldırım, Serdar Ceylaner, Memduh Dursun, Sait Mesut Doğan   +5 more
doaj   +1 more source

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

Frontiers in Genetics, 2023
Background: Anderson–Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha ...
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +1 more source

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]

, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina, Kisinovsky, Isaac, Roa, Norma, Rozenfeld, Paula Adriana   +3 more
core   +5 more sources

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. [PDF]

, 2018
BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males ...
Brand, Eva, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C, Germain, Dominique P, Jovanovic, Ana, Kempf, Judy, Laney, Dawn A, Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P, Waldek, Stephen, Wanner, Christoph   +15 more
core   +1 more source

Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report

BMC Pediatrics, 2020
Background Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritance ...
Hasani Hewavitharana, Eresha Jasinge, Hiranya Abeysekera, Jithangi Wanigasinghe   +3 more
doaj   +1 more source

Fabry disease: clinical and genotypic aspects of three cases in first degree relatives [PDF]

Anais Brasileiros de Dermatologia, 2014
Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy ...
Leticia Bueno Nunes da Silva, Thais Cardoso de Mello Tucunduva Badiz, Milvia Maria Simoes e Silva Enokihara, Adriana Maria Porro   +3 more
doaj   +2 more sources

Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]

, 2014
Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E, Feriozzi S, Giannakakis K, Gomes VV, MASSARI, ANNALISA, Ranalli TV   +5 more
core   +1 more source

Fabry disease exacerbates renal interstitial fibrosis after unilateral ureteral obstruction via impaired autophagy and enhanced apoptosis [PDF]

Kidney Research and Clinical Practice, 2021
Background Fabry disease is a rare X-linked genetic lysosomal disorder caused by mutations in the GLA gene encoding alpha-galactosidase A. Despite some data showing that profibrotic and proinflammatory cytokines and oxidative stress could be involved in ...
Sungjin Chung, Mina Son, Yura Chae, Songhee Oh, Eun Sil Koh, Yong Kyun Kim, Seok Joon Shin, Cheol Whee Park, Sung-Chul Jung, Ho-Shik Kim   +9 more
doaj   +1 more source

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Giese, A-K, Grittner, U, Kolodny, E, Lackner, KJ, Lukas, J, Markoff, A, Mascher, H, Meyer, W, Rolfs, A, Saviouk, V, Wree, P   +10 more
core   +3 more sources

Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family

Case Reports in Nephrology, 2020
Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure.
Amaresh R. Vanga, Samantha A. Schrier Vergano, Jolanta Kowalewska, Thomas R. McCune   +3 more
doaj   +1 more source