Results 111 to 120 of about 2,063 (198)

Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease [PDF]

, 2017
Aims A hallmark of Fabry disease is the concomitant development of left-ventricular hypertrophy and arterial intima-media thickening, the pathogenesis of which is thought to be related to the presence of a plasmatic circulating growth-promoting factor ...
Barbey, Frédéric, Bekri, Soumeya, Brakch, Noureddine, Correvon, Magali, Dormond, Olivier, Golshayan, Dela, Mazzolai, Lucia, Steinmann, Beat   +7 more
core  

Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease [PDF]

, 2023
Purpose: Fabry disease (FD) is a rare lysosomal storage disorder caused by pathogenic variants in the GLA gene encoding α-galactosidase (α-Gal)-A.
Almon, EB, Alon, S, Atta, MG, Bernat, JA, Chertkoff, R, Giraldo, P, Goker-Alpan, O, Gonzalez, D, Holida, M, Hughes, D, Maegawa, G, Rocco, R   +11 more
core  

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

Arquivos Brasileiros de Cardiologia
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of ...
Ândrea Virgínia Chaves-Markman, Manuel Markman, Eveline Barros Calado, Ricardo Flores Pires, Marcelo Antônio Oliveira Santos-Veloso, Catarina Maria Fonseca Pereira, Andréa Bezerra de Melo da Silveira Lordsleem, Sandro Gonçalves de Lima, Brivaldo Markman Filho, Dinaldo Cavalcanti de Oliveira   +9 more
doaj   +1 more source

Commentary on ‘Lentivirus‐mediated gene therapy for Fabry disease: 5‐year end‐of‐study results from the Canadian FACTS trial’

Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Alessandro Rossi, Nicola Brunetti‐Pierri   +1 more
wiley   +1 more source

Lower lean tissue mass in male Fabry disease patients and the burden of disease: findings from dual X-ray absorptiometry body composition

Journal of Rare Diseases
Introduction Fabry disease (FD) is an X-linked sphingolipidosis characterized by pathogenic variants in the GLA gene, which affect alpha-galactosidase A activity. Studies on body composition in FD patients have shown conflicting results.
Nilton Salles Rosa Neto, Judith Campos de Barros Bento, Liliam Takayama, Valéria de Falco Caparbo, Rosa Maria Rodrigues Pereira, Diogo Souza Domiciano   +5 more
doaj   +1 more source

Towards a one‐time cure for Fabry disease: Lentivirus‐mediated haematopoietic stem and progenitor cell gene therapy

Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Rina Kansal
wiley   +1 more source

Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction

Molecular Genetics and Metabolism Reports
Fabry disease (FD) is an X-linked lysosomal storage disease caused by mutations in GLA, which encodes α-galactosidase A (GLA). The loss or reduced activity of GLA leads to damage to multiple organs, resulting in the intracellular accumulation of ...
Natsuko Inagaki, Yasuyoshi Takei, Tsuguhisa Hatano, Yasuyuki Takada, Yoshinao Yazaki, Hisanori Kosuge, Masatake Kobayashi, Shinji Suzuki, Tomohiro Umezu, Masahiko Kuroda, Kazuhiro Satomi, Takeharu Hayashi   +11 more
doaj   +1 more source

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

Doença de Fabry e o coração [PDF]

, 2022
Tese de doutoramento em MedicinaA doença de Fabry (DF) é uma causa de miocardiopatia hipertrófica (MCH), mas a sua prevalência na MCH não está esclarecida.
Silva, Olga Esmeralda Padrão Azevedo da
core  

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