Results 31 to 40 of about 1,308 (153)

Unraveling the Drivers and Consequences of Gut Microbiota Disruption in Fabry Disease: The lyso-Gb3 Link [PDF]

Future Microbiology, 2020
Peer ...
Sánchez-Niño, María Dolores, Aguilera-Correa, John-Jairo, Politei, Juan, Esteban, Jaime, Requena, Teresa, Ortiz, Alberto   +5 more
openaire   +3 more sources

Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model

Journal of Lipid Research, 2020
Fabry disease is caused by deficient activity of α-galactosidase A, an enzyme that hydrolyzes the terminal α-galactosyl moieties from glycolipids and glycoproteins, and subsequent accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3 ...
Siamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S. Day, Mouna Taroua, Raphael Schiffmann, Christiane Auray-Blais, Jin-Song Shen   +6 more
doaj   +1 more source

New insights in efficacy of different ERT dosages in Fabry disease: Switch and switch-back studies data following agalsidase beta shortage. Update of systematic review

Genetics in Medicine Open, 2023
In 2016, a systematic review and a meta-analysis of existing data on the effects of switch from agalsidase beta to alfa in patients with Fabry disease showed that the switch was well tolerated and associated with stable disease progression.
Eleonora Riccio, Carlo Garofalo, Ivana Capuano, Pasquale Buonanno, Guido Iaccarino, Teodolinda Di Risi, Massimo Imbriaco, Federica Riccio Cuomo, Antonio Pisani   +8 more
doaj   +1 more source

A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice [PDF]

Kidney Research and Clinical Practice, 2023
Background Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for ...
Soo Jeong Choi, Su Hyun Kim, Min Sung Lee, Samel Park, Eunjung Cho, Seung Seok Han, Eun Sil Koh, Byung Ha Chung, Kyung Hwan Jeong, Eun Hui Bae, Eun Young Lee, Young Joo Kwon   +11 more
doaj   +1 more source

A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women. [PDF]

J Inherit Metab Dis
ABSTRACT Anderson–Fabry disease (AFD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as
Lenzini L, Pintus G, Gugelmo G, Burlina AP, Fadini GP, Burlina AB, Vitturi N.   +6 more
europepmc   +2 more sources

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation. [PDF]

PLoS ONE, 2018
Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations.
L Lavalle, A S Thomas, B Beaton, H Ebrahim, M Reed, U Ramaswami, P Elliott, A B Mehta, D A Hughes   +8 more
doaj   +1 more source

Systematic gene therapy derived from an investigative study of AAV2/8 vector gene therapy for Fabry disease

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease (FD) is a progressive multisystemic disease characterized by a lysosomal enzyme deficiency. A lack of α-galactosidase A (α-Gal A) activity results in the progressive systemic accumulation of its substrates, including ...
Mulan Deng, Hongyu Zhou, Shaomei He, Haoheng Qiu, Yanping Wang, April Yuanyi Zhao, Yunping Mu, Fanghong Li, Allan Zijian Zhao   +8 more
doaj   +1 more source

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation

Open Heart, 2023
Objective To present phenotypic characteristics and biomarkers of a family with the rare mutation Thr410Ala of the α-galactosidase A gene (T410A/GLA) causing Fabry disease (FD).Methods and results In a woman in her 60s with hypertrophic cardiomyopathy ...
Christiane Auray-Blais, Kati Valtola, Marja Hedman, Maleeha Maria, Ilkka Kantola, Johanna Kuusisto, Seppo Helisalmi, Susanne Walls, Joose Raivo   +8 more
doaj   +1 more source

Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy [PDF]

Clinical and Experimental Nephrology, 2017
Recently, globotriaosylsphingosine (lyso-Gb3) has attracted interest as a biomarker of Fabry disease. However, little is known regarding its utility for the evaluation of the therapeutic efficacy.We measured plasma lyso-Gb3 concentration in Japanese healthy subjects and Fabry patients by means of liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Hitoshi, Sakuraba, Tadayasu, Togawa, Takahiro, Tsukimura, Hiroshi, Kato   +3 more
openaire   +2 more sources

Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice

Journal of Lipid Research, 2011
The aim of our study was to measure globotriaosylceramide (Gb3) and lyso-Gb3 levels by tandem mass spectrometry in the urine and kidney in Fabry (gla knockout) mice and wild-type controls.
Brandon Durant, Sabrina Forni, Lawrence Sweetman, Nastry Brignol, Xing-Li Meng, Elfrida R. Benjamin, Raphael Schiffmann, Jin-Song Shen   +7 more
doaj   +1 more source