Results 81 to 90 of about 7,193 (177)

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy

Frontiers in Genetics
BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine ...
Lanxin Li, Tianyu Chang, Xichen Li, Yinglu Hao, Min Deng, Yanping Li   +5 more
doaj   +1 more source

Genetic characterization and plasma levels of Lyso Gb3 assessed in Fabry disease patients.

, 2018
Genetic characterization and plasma levels of Lyso Gb3 assessed in Fabry disease patients.
Elisa Pagnin (5798105), Linda Landini (5798117), Lorenzo A. Calò (5798123), Verdiana Ravarotto (5798102), Gianni Carraro (38982), Giovanni Bertoldi (5798108), Matteo Martinato (5798114), Francesca Simioni (5798111), Paul A. Davis (5798120), Giuseppe Maiolino (127828)   +9 more
core   +1 more source

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

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

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients [PDF]

, 2013
Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as
Rolfs, A, Hermann Mascher, Boettcher, T, Anne-Katrin Giese (440558), Wittstock, M, Huebner, R, Roehle, A, Arndt Rolfs (140849), Zimran Ari, Deborah Elstein (487463), Mascher Hermann, Deborah Elstein, Ari Zimran, Röhle Anja, Wittstock Matthias, Arndt Rolfs, Grittner Ulrike, Tobias Böttcher (451245), Grittner, U, Jan Lukas, Rolfs Arndt, Jan Lukas (338014), Rayk Hübner (487464), Rayk Hübner, Uta Gölnitz, Ales Dudesek, Lukas Jan, Anja Röhle, Daniel Mascher (487462), Meyer, W, Tobias Böttcher, Giese, A-K, Mascher Daniel, Giese Anne-Katrin, Hermann Mascher (440562), Anne-Katrin Giese, Goelnitz, U, Daniel Mascher, Dudesek Ales, Ulrike Grittner, Uta Gölnitz (87824), Zimran, A, Matthias Wittstock (487467), Mascher, H, Elstein, D, Dudesek, A, Gölnitz Uta, Matthias Wittstock, Böttcher Tobias, Hübner Rayk, Ulrike Grittner (440560), Mascher, D, Ari Zimran (266246), Lukas, J, Wolfgang Meyer, Meyer Wolfgang, Wolfgang Meyer (440563), Elstein Deborah, Anja Röhle (487465), Ales Dudesek (487466)   +59 more
core   +2 more sources

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

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.

PLoS ONE, 2012
IntroductionEnzyme replacement therapy (ERT) with alpha-Galactosidase A (aGal A) may cause antibody (AB) formation against aGal A in males with Fabry disease (FD). Anti agalsidase ABs negatively influence globotriaosylceramide (Gb3) reduction.
Saskia M Rombach, Johannes M F G Aerts, Ben J H M Poorthuis, Johanna E M Groener, Wilma Donker-Koopman, Erik Hendriks, Mina Mirzaian, Sijmen Kuiper, Frits A Wijburg, Carla E M Hollak, Gabor E Linthorst   +10 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

Les biomarqueurs dans la maladie de Fabry: relation entre Sphingosine-1 phosphate et Lyso-Gb3

, 2012
Problématique : La maladie de Fabry est une maladie métabolique à stockage lysosomal. C'est une maladie héreditaire à transmission récessive qui concerne l'enzyme alpha-Galactosidase A. Le gène de l'alpha-Galactosidase A (GLA) se trouve au niveau du bras
Moro, D.
core   +1 more source

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs

Frontiers in Cardiovascular Medicine
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment.
Antonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, Maurizio Gallieni, Chiara Lanzillo, Antonella La Russa, Giuseppe Limongelli, Renzo Mignani, Renzo Mignani, Iacopo Olivotto, Federico Pieruzzi, Federico Pieruzzi, Antonio Pisani   +12 more
doaj   +1 more source