Results 61 to 70 of about 7,450 (200)

Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy

Molecular Genetics and Metabolism Reports, 2020
Fabry disease is an X-linked metabolic disorder due to a pathogenic mutation of the GLA gene. The accumulation of globotriaosylceramide (Gb3) damages multiple organs, including the heart, kidney and nervous system, especially in classical type Fabry ...
Kenichi Hongo, Toru Harada, Eiko Fukuro, Masahisa Kobayashi, Toya Ohashi, Yoshikatsu Eto   +5 more
doaj   +1 more source

Sensory-specific peripheral nerve pathology in a rat model of Fabry disease

Neurobiology of Pain, 2021
Fabry disease (FD) causes life-long pain, the mechanisms of which are unclear. Patients with FD have chronic pain that mirrors symptoms of other painful peripheral neuropathies. However, it is unclear what underlying damage occurs in FD peripheral nerves
Tyler B. Waltz, Anthony J. Burand, Jr., Katelyn E. Sadler, Cheryl L. Stucky   +3 more
doaj   +1 more source

Neurological complications of Anderson-Fabry disease [PDF]

, 2013
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina, LICATA, Giuseppe, Miceli S, Pecoraro R, PINTO, Antonio, Simonetta I, TUTTOLOMONDO, Antonino   +6 more
core   +1 more source

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

Molecular Therapy: Methods & Clinical Development, 2020
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene, which encodes the exogalactosyl hydrolase, alpha-galactosidase A (α-Gal A).
Makiko Yasuda, Marshall W. Huston, Silvere Pagant, Lin Gan, Susan St. Martin, Scott Sproul, Daniel Richards, Stephen Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler   +16 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

Pectic oligosaccharide structure-function relationships: prebiotics, inhibitors of Escherichia coli O157:H7 adhesion and reduction of Shiga toxin cytotoxicity in HT29 cells [PDF]

, 2017
Shiga toxin (Stx)-producing, food-contaminating Escherichia coli (STEC) is a major health concern. Plant-derived pectin and pectic-oligosaccharides (POS) have been considered as prebiotics and for the protection of humans from Stx.
Chau, Hoa K., Di, Rong, Hotchkiss, Arland T., Onumpai, Chatchaya, Rastall, Robert A., Vakkalanka, Malathi S., White, Andre, Yam, Kit   +7 more
core   +1 more source

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

Clinical and Pathological Findings in Women with Fabry Disease [PDF]

, 2009
Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Chan, KH, Chu, ACY, Ho, JWM, Ho, PWL, Ho, SL, Kung, MHW, Kwok, KHH, Liu, HF, Ramsden, David   +8 more
core   +2 more sources

Investigation of encephalopathy caused by Shiga toxin 2c-producing Escherichia coli infection in mice [PDF]

, 2013
A large outbreak of Shiga toxin (Stx)-producing enteroaggregative Escherichia coli (EAEC) O104:H4 occurred in northern Germany. From this outbreak, at least 900 patients developed hemolytic uremic syndrome (HUS), resulting in more than 50 deaths.
Yunus Amran, Muhammad
core   +4 more sources

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

, 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 ...
Badiz, Thais Cardoso De Mello Tucunduva, Enokihara, Milvia Maria Simoes E Silva, Porro, Adriana Maria, Silva, Leticia Bueno Nunes Da   +3 more
core   +2 more sources