دانلود مقالات ISI درباره Α-Gal A + ترجمه فارسی

پیشینه بیماری فابی: توصیه های مدیریت و درمان برای بیماران بالغ

Fabry disease revisited: Management and treatment recommendations for adult patients

Keywords: Fabry disease; Diagnosis; Mutation; Management; Treatment; ACEI; angiotensin converting enzyme inhibitor; ARB; angiotensin receptor blocker; AV; atrioventricular; α-Gal A; α-galactosidase A; CKD; chronic kidney disease; CNS; central nervous system; CT;

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2018 سفارش ترجمه

زخم های بیومولکول و اختلالات وضعیت ردوکس در بیماران فابی قبل و بعد از درمان جایگزینی آنزیم

Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy

Keywords: α-gal A; α-galactosidase A; Cr; creatinine; ERT; enzyme replacement therapy; FD; Fabry disease; GCL; glutamate cysteine ligase; Gb3; globotriaosylceramide; GLA; α-galactosidase A coding gene; GPx; glutathione peroxidase; GR; glutathione reductase; GSH;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

فابری در بیمار مسن تر: عواقب بالینی و امکان درمان

Fabry in the older patient: Clinical consequences and possibilities for treatment

Keywords: α-Gal A; alpha-galactosidase A; CKD EPI; Chronic Kidney Disease Epidemiology Collaboration; eGFR; estimated glomerular filtration rate; ERT; enzyme replacement therapy; FOS; Fabry Outcome Survey; LVH; left ventricular hypertrophy; LVMI; left ventricular

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

غربالگری برای بیماری فابی در بیماران تحت دیالیز برای نارسایی مزمن کلیه در ترکیه: شناسایی موارد جدید با جهش جدید

Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation

Keywords: α-Gal A; alpha-galactosidase A; CKD; chronic kidney disease; CRF; chronic renal failure; DBS; dried blood samples; DNA; deoxyribonucleic acid; DP; dialysis patients; EDTA; ethylenediaminetetraacetic acid; FD; Fabry disease; Gb3; globotriaosylceramide; GF

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ

Keywords: α-Gal A; alpha-galactosidase A; FD; Fabry disease; DGJ; 1-deoxygalactonojirimycin; VUS; variants of unknown significance; 1-Deoxygalactonojirimycin; DGJ; De novo mutation; Atypical variants; Lipofectamine; Site-directed mutagenesis;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2018 سفارش ترجمه

The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein

Keywords: 4-MUG; 4-methylumbelliferone α-d-galactopyranoside; GalNAc; N-acetyl-d-galactosamine; α-Gal A; alpha-Galactosidase A; α-syn; alpha-synuclein; ALP; autophagy-lysosome pathway; Cat B; cathepsin B; Cat D; cathepsin D; Gb3; globotriaosylceramide; lyso-Gb3;

دانلود رایگان متن کامل مقاله ISI 45 صفحه سال انتشار : 2018 سفارش ترجمه

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome

Keywords: α-gal A; α-galactosidase A; Gb3; globotriaosylceramide; Gb2; galabiosylceramide; XCI; X-chromosomal inactivation; LVH; left ventricular hypertrophy; α-Galactosidase A; Globotriaosylceramide; Intellectual disability; X-chromosomal inactivation; Methylat

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients

Keywords: OMIM; Online Mendelian Inheritance in Man; α-GAL A; α-galactosidase A; ERT; enzyme replacement therapy; CFDI; Canadian Fabry Disease Initiative; Gb3 or GL-3; globotriaosylceramide; CTH; ceramide trihexoside; Ga2; galabiosylceramide; CDH; ceramide dihexo

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

The prevalent deep intronic c. 639 + 919 G > A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

Keywords: α-Gal A; α-galactosidase A enzyme; ESE; exonic splicing enhancer; ESS; exonic splicing silencer; FGB; fibrinogen β gene; GLA; α-galactosidase A gene; hnRNP A1, A2/B1, F, and H; heterogeneous ribonucleoprotein A1, A2/B1, F, and H; NMD; nonsense-mediate

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2016 سفارش ترجمه

Associate editor: O. BinahInherited cardiomyopathies-Novel therapies

Keywords: Hypertrophic cardiomyopathy; Dilated cardiomyopathy; Arrhythmogenic cardiomyopathy; Amyloidosis; Duchenne muscular dystrophy; Gene therapy; ACM; arrhythmogenic cardiomyopathy; AON; antisense oligo-nucleotide; α-Gal A; α-galactosidase A; BMD; Becker musc

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2015 سفارش ترجمه

Novel alpha-galactosidase A mutation in a female with recurrent strokes

Keywords: AFD; Anderson-Fabry disease; GL-3; globotriaosylceramide; cDNA; complementary DNA; 3′ UTR; three prime untranslated region; pAS; polyadenylation signal; CT; computed tomography; magnetic resonance imaging; MRI; DBFP; Dried Blood Filter Paper; K,EDTA;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion

Keywords: α-Gal A; α-galactosidase A; GL-3 or Gb3; globotriaosylceramide; ERT; enzyme replacement therapy; MLPA; Multiplex Ligation-dependent Probe Amplification; PCR; polymerase chain reaction; Fabry disease; Lysosomal storage disease; α-galactosidase A; Gene r

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Guidelines to Diagnosis and Monitoring of Fabry Disease and Review of Treatment Experiences

Keywords: α-Gal A; α-Galactosidase A; CKD; Chronic kidney disease; eGFR; Estimated glomerular filtration rate; ERT; Enzyme replacement therapy; GLA; α-Galactosidase A gene; GL-3; Globotriaosylceramide; GL-2; Lactosylceramide; HDL; High-density lipoprotein; LDL;

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2009 سفارش ترجمه

Radiological Evidence of Early Cerebral Microvascular Disease in Young Children with Fabry Disease

Keywords: CNS; Central nervous system; ERT; Enzyme replacement therapy; FLAIR; Fluid attenuated inversion recovery; α-Gal A; α Galactosidase A; MRI; Magnetic resonance imaging;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2005 سفارش ترجمه