Keywords: FD, Fabry disease; AGAL, alpha-galactosidase A; GLA, alpha-galactosidase A gene; GL3, globotriaosylceramide; DBS, dried blood sampleα-galactosidase A; Mutations; GLA gene; Lysosomal disorder
مقالات ISI (ترجمه نشده)
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Keywords: mtDNA, mitochondrial genome; FD, fabry disease; ETC, electron transport chain; ROS, reactive oxygen speciesmtDNA; Haplogroups; Fabry; Mitochondrial genotype; Oxidative stress
Molecular and clinical studies in five index cases with novel mutations in the GLA gene
Keywords: FD, Fabry disease; α-GAL A, α-galactosidase A; GB3, globotriaosylceramide; Lyso-GB3, globotriaosylsphingosine; GLA, GLA gene; ND, not determined; DGJ, 1-deoxygalactonojirimycin; ISE, intron splicing enhancerFabry disease; Alpha-galactosidase A; c.846_847d
GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing
Keywords: FD, Fabry disease; XCI, X-chromosome inactivation; α-Gal A, α-galactosidase A; CGN, chronic glomerulonephritis; SNVs, Single nucleotide variants; GATK, Genome Analysis Toolkit; LCLs, lymphoblastoid cell linesExome sequencing; Fabry disease; The GLA gene;
DNA damage in Fabry patients: An investigation of oxidative damage and repair
Keywords: BER, base excision repair; DCF, dichlorofluorescein; DCFH, dihydrodichlorofluorescein; DI, damage index; EndoIII, endonuclease III; ERT, enzyme replacement therapy; FD, Fabry disease; FPG, formamidopyrimidine DNA-glycosylase; Gb3, globotriaosylceramideFab
Lysosome-associated protein 1 (LAMP-1) and Lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease
Keywords: AUC, albumin/creatinine ratio; α–GAL, α-galactosidase A; ECC, echocardiogram; ECG, electrocardiogram; eGFR, glomerular filtration ratio; ERT, enzyme replacement therapy; FD, Fabry disease; Gb3, globotriaosylceramide; GLA, α-galactosidase A gene; LAMP-1, l
Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma
Keywords: DBS, dried blood spots on filter paper; FD, Fabry disease; GLA, alpha-galactosidase A; ROC, receiver operating characteristicFabry disease; Alpha-galactosidase A; Enzyme activity; Inborn errors of metabolism
Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy
Keywords: Cr, creatinine; CAT, catalase; Di-Tyr, di-tyrosine; FD, Fabry disease; FU, fluorescence units; Gb3, globotriaosylceramide; GLA, α-galactosidase A; GPx, glutathione peroxidase; GSH, reduced glutathione; H2O2, hydrogen peroxide; HPLC, high-performance liqui
Influence of pre-analytical factors on α-galactosidase A, arylsulfatase B and α-glucosidase activities measured on dried blood spots on filter paper
Keywords: LSD, lysosomal storage diseases; DBS, dried blood spots on filter paper; FD, Fabry disease; GLA, α-galactosidase A; MPS VI, mucopolysaccharidosis VI; ASB, arylsulfatase B; GSD II, glycogen storage disease type II; GAA, α-glycosidaseLysosomal storage disea
Differences in Fabry Cardiomyopathy Between Female and Male Patients : Consequences for Diagnostic Assessment
Keywords: cardiomyopathy; echocardiography; Fabry disease; hypertrophyERT, enzyme replacement therapy; FD, Fabry disease; LE, late enhancement; LV, left ventricle/ventricular; LVWT, left ventricular wall thickness
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
Keywords: CI, confidence interval; DBS, dried blood spots; FD, Fabry disease; GLA, α-galactosidase A; MS/MS, tandem mass spectrometryFabry disease; Galactosidase; Newborn screening; Dried blood; Tandem mass spectrometry
Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy
Keywords: FD, Fabry disease; HCM, hypertrophic cardiomyopathy