Results 21 to 30 of about 2,063 (198)

Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis [PDF]

Molecular Genetics and Metabolism Reports
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient or dysfunctional α-galactosidase A (AGAL) activity. Newborn screening (NBS) enables early detection and management; however,
Takaaki Sawada, Jun Kido, Takahiro Tsukimura, Keishin Sugawara, Tomoko Shiga, Seiji Saito, Tadayasu Togawa, Takahito Inoue, Yoriko Watanabe, Junpei Hamada, Hitoshi Sakuraba, Kimitoshi Nakamura   +11 more
doaj   +2 more sources

Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now [PDF]

Diseases, 2017
Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation.
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes   +6 more
doaj   +4 more sources

#2635 ASSOCIATION BETWEEN PLASMA LYSO-GB3 LEVELS AND BONE MINERAL DENSITY IN PATIENTS WITH FABRY DISEASE [PDF]

Nephrology Dialysis Transplantation, 2023
Abstract Background and Aims Fabry disease is a rare X-linked genetic disorder that contributes to various clinical manifestations including cardiac hypertrophy, renal dysfunction, cerebrovascular disease, angiokeratoma, and anhidrosis.
Yuma Nose, Hideki Fujii, Shunsuke Goto, Keiji Kono, Hayaki Okamoto, Kentaro Watanabe, Shinichi Nishi   +6 more
openalex   +2 more sources

Lyso-Gb3 activates Notch1 in human podocytes [PDF]

Human Molecular Genetics, 2015
Podocyte injury is an early feature of Fabry nephropathy, but the molecular mechanisms of podocyte injury are poorly understood. Lyso-Gb3 accumulates in serum in Fabry disease and increases extracellular matrix synthesis in podocytes. We explored the contribution of Notch1 signaling, a mediator of podocyte injury, to lyso-Gb3-elicited responses in ...
María Dolores Sánchez-Niño, Daniel Carpio, Ana B. Sanz, Marta Ruiz‐Ortega, Sergio Mezzano, Alberto Ortíz   +5 more
openalex   +3 more sources

Correction: Assessment of plasma lyso-Gb₃ for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. [PDF]

Genet Med, 2021
Bichet DG, Aerts JM, Auray-Blais C, Maruyama H, Mehta AB, Skuban N, Krusinska E, Schiffmann R.   +7 more
europepmc   +3 more sources

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   +3 more sources

B-204 Determination of Lyso-GB3 in Dried Blood Spots: A Useful Biomarker for Fabry Disease [PDF]

Clinical Chemistry, 2023
Abstract Background Fabry disease, an X-linked inborn error of metabolism, results from pathogenic mutations in the α-galactosidase A gene (GLA). These mutations reduce or abolish the α-galactosidase A activity, which result in accumulation of glycosphingolipids in the lysosomes, including ...
B F Paulo, Erica Novo, D A Zauli, Antoni Serra   +3 more
openalex   +2 more sources

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. [PDF]

Genet Med, 2019
Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, Murayama K, Inoue T, Yamamoto S, Sugimura K, Tamita K, Kawasaki T, Kajihara J, Onishi A, Sugiyama H, Sakai T, Murata I, Oda T, Toyoda S, Hanawa K, Fujimura T, Ura S, Matsumura M, Takano H, Yamashita S, Matsukura G, Tazawa R, Shiga T, Ebato M, Satoh H, Ishii S.   +30 more
europepmc   +3 more sources

Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid-Liquid Extraction Combined with LC-MS/MS. [PDF]

ACS Omega
Canbay E, Uzun Ç, Akçay Y, Canda E, Yazıcı H, Kalkan Uçar S, Çoker M, Yıldırım Sözmen E.   +7 more
europepmc   +2 more sources

Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial

Clinical and Translational Medicine
Background Fabry disease is an X‐linked lysosomal storage disorder due to a deficiency of α‐galactosidase A (α‐gal A) activity. Our goal was to correct the enzyme deficiency in Fabry patients by transferring the cDNA for α‐gal A into their CD34 ...
Aneal Khan, Dwayne L. Barber, William M. McKillop, C. Anthony Rupar, Christiane Auray‐Blais, Graeme Fraser, Daniel H. Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael L. West, Jeffrey A. Medin   +11 more
doaj   +2 more sources