Results 131 to 140 of about 31,524 (206)

Eliglustat prevents acute kidney injury caused by Shiga toxin 2 in lethal and sublethal rat models of hemolytic uremic syndrome. [PDF]

Front Pharmacol
Sánchez DS, Fischer Sigel LK, Zotta E, Silberstein C.   +3 more
europepmc   +1 more source

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   +1 more source

Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant.

JIMD Reports, 2019
A. Talbot, K. Nicholls
semanticscholar   +1 more source

Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development. [PDF]

Front Pharmacol
Gómez-Cebrián N, Trull MC, Gras-Colomer E, Edo Solsona MD, Poveda Andrés JL, Puchades-Carrasco L.   +5 more
europepmc   +1 more source

Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing. [PDF]

BMC Cardiovasc Disord
Arad M, Chaves AVF, Antunes M, Bakhsh A, Berger KI, Fat TH, Alves da Fonseca A, Furtado A, Maksimova I, Marques E Silva S, Maski M, Monjes E, Murillo Benitez NE, Ortuño Campos E, Ribeiro MG, Rodriguez-González MJ, Yu WC, Onay H.   +17 more
europepmc   +1 more source

Sex-based antibody subclass maturation drives direct enzymatic inhibition in fabry disease patients receiving enzyme replacement therapy. [PDF]

Front Mol Biosci
Baldwin T, Kurdi H, Doykov I, Robertson F, Rosmini S, Nordin S, Augusto J, Kozor R, Baruteau J, Davison J, Moreno-Martinez D, Ramaswami U, Vijapurapu R, Geberhiwot T, Steeds R, Moon J, Hughes D, Mills K, Heywood WE.   +18 more
europepmc   +1 more source

Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report. [PDF]

Mol Genet Metab Rep
Vitturi N, Gugelmo G, Zanini F, Carraro G, Lenzini L, Leonardi A.   +5 more
europepmc   +1 more source

Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients

Genetics in Medicine, 2018
Ming-Jia Hsu, Fu‐Pang Chang, Yung-Hsiu Lu, S. Hung, Yu-Chen Wang, An-Hang Yang, Han‐Jui Lee, S. Sung, Yen-Feng Wang, Wen-Chung Yu, Ting-Rong Hsu, Po‐Hsun Huang, Sheng-Kai Chang, I. Dzhagalov, Chia-Lin Hsu, D. Niu   +15 more
semanticscholar   +1 more source

Novel GLA variant in Fabry cardiomyopathy: evidence of pathogenicity and amenability to migalastat. [PDF]

Open Heart
Fan Y, Cui C, Zhang X, Hu C, Xu A, Wang L, Li H, Zhu X, Niu F.   +8 more
europepmc   +1 more source

From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease. [PDF]

JACC Case Rep
Kalaria A, Farooq W, Kolupoti A, Meng J, Kim AS.   +4 more
europepmc   +1 more source