Results 111 to 120 of about 31,524 (206)

γ2 Chain of Laminin-5 Is Recognized By Monoclonal Antibody GB3

Journal of Investigative Dermatology, 1995
Herlitz junctional epidermolysis bullosa is an autosomal recessive disorder characterized by generalized blistering at the lamina lucida of the cutaneous basement membrane. The monoclonal antibody GB3 has been used as a diagnostic probe because of its lack of reactivity in patient skin.
Matsui, Chihiro, Nelson, Charlotte F., Hernandez, German T., Scott Herron, G., Bauer, Eugene A., Hoeffler, Warren K.   +5 more
openaire   +2 more sources

Generation of a gene-corrected human isogenic iPSC line from a patient with Fabry disease carrying the GLA variant c.1069C>T using CRISPR/Cas9-mediated homology directed repair

Stem Cell Research
Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and intracellular globotriaosylceramide (Gb3) accumulation.
Franziska Karl-Schöller, Maximilian Breyer, Eva Klopocki, Nurcan Üçeyler   +3 more
doaj   +1 more source

Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH)

BMC Nephrology
Background and hypothesis Fabry disease (FD) is an X-linked inherited disorder with an estimated prevalence among the end-stage kidney disease (ESKD) population of 0.3% in men and 0.1% in women [1].
K.P. Ng, M. Sandhu, D. Banerjee, J.O. Burton, L. Crowley, T. Doulton, M.A. Hameed, R. Hamer, M. Menon, J. Nicholas, S.B. Ramakrishna, K. Shivakumar, T. Geberhiwot, I. Dasgupta   +13 more
doaj   +1 more source

Modeling Fabry nephropathy: insights from experimental systems towards precision nephrology. [PDF]

Dis Model Mech
Elsaid H, Furriol J, Eikrem Ø, Tøndel C, Svarstad E.   +4 more
europepmc   +1 more source

From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia-a case series. [PDF]

Front Med (Lausanne)
Karanfilovski V, Nikolov IG, Dzekova Vidimliski P, Balkanov SK, Severova G, Stojanoska A, Gjorgjievski N.   +6 more
europepmc   +1 more source

A Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy. [PDF]

Kidney Med
Oka M, Suzuki R, Akasaka T.
europepmc   +1 more source

Dissecting Multivalent Carbohydrate Binding through Controlled Ligand Patterns on Cyclic Nanoscaffolds. [PDF]

Biomacromolecules
Wang XY, Lee ZY, Li MC, Hashimoto M, Cheung KY, Chan YT, Cheng WC, Wang SK.   +7 more
europepmc   +1 more source

Case Report: Is it COPD? It is Fabry disease: a case in which bronchodilators were briefly used but not continued, prioritizing enzyme replacement therapy. [PDF]

Front Pharmacol
Li Y, Zhu H, Zhan Z, Li G, Huang S, Xiao C, Li Y, Zheng C, Huang F.   +8 more
europepmc   +1 more source

Hydroxychloroquine-induced renal phospholipidosis manifesting as proximal tubulopathy in systemic lupus erythematosus. [PDF]

BMC Nephrol
Manabe S, Seki M, Ushio Y, Ochiai M, Takahashi R, Kobayashi S, Makabe S, Ito N, Kataoka H, Taneda S, Honda K, Nitta K, Hoshino J.   +12 more
europepmc   +1 more source

Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy-Avoiding in vitro inhibition effects. [PDF]

Mol Genet Metab Rep
Munakata M, Iwamoto T, Chen W, Akiyama K, Eto Y.   +4 more
europepmc   +1 more source