Keywords: بیماری فابی; Multiple sclerosis; Fabry disease; MRI;
مقالات ISI بیماری فابی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: بیماری فابی; Fabry disease; Cardiomyopathy; Bradycardia; Tachycardia; Arrhythmia; Pacemaker; Defibrillator;
Keywords: بیماری فابی; Fabry disease; Cardiomyopathy; Oxidative stress; Cardiac dysfunction; Cell death
Keywords: بیماری فابی; Gb3; globotriaosylceramide; lyso-Gb3; globotriaosylsphingosine; α-GAL; alpha-galactosidase A; LVH; left ventricular hypertrophy; ERT; enzyme replacement therapy; CFDI; Canadian Fabry Disease Initiative; REB; Research Ethics Board; CHUS; Centre hospitalie
Keywords: بیماری فابی; Fabry disease; cardiomyopathy; monitoring; treatment;
Keywords: بیماری فابی; Gaucher disease; Fabry disease; enzyme replacement therapy; therapeutic goals; attenuated phenotypes; late onset;
Keywords: بیماری فابی; Fabry disease; Alpha-galactosidase A; De novo mutation; Novel mutation; W340S; Genetic counseling
Keywords: بیماری فابی; Evoked pain; Fabry disease; Fabry Pain Questionnaire; Neuropathic pain; Pain attacks; Pain crises;
Keywords: بیماری فابی; Fabry disease; Hypertrabeculation/noncompaction; Endomyocardial biopsy; Doença de Fabry; Hipertrabeculação/não compactação; Biópsia endomiocárdica;
Keywords: بیماری فابی; Fabry disease; Screening; Molecular diagnosis; α-GAL activity;
Keywords: بیماری فابی; Fabry disease; Hypertrabeculation/noncompaction; Endomyocardial biopsy; Doença de Fabry; Hipertrabeculação/não compactação; Biópsia endomiocárdica;
Keywords: بیماری فابی; Fabry disease; α-galactosidase A; α-GLA-A enzyme; Fabry nephropathy
Keywords: بیماری فابی; Fabry disease; Diagnosis; Treatment; Management
Keywords: بیماری فابی; Newborn screening; Lysosomal storage disease; Fabry disease; Pompe disease; Gaucher disease; Tandem mass spectrometry
Keywords: بیماری فابی; Fabry disease; Outcomes; Enzyme replacement therapy; Agalsidase;
Keywords: بیماری فابی; Fabry disease; stroke; youth; prevalence; meta-analysis;
Keywords: بیماری فابی; agalsidase alfa; agalsidase beta; enzyme replacement therapy; Fabrazyme; Fabry disease; Replagal
Keywords: بیماری فابی; endothelial cell; endothelial nitric oxide synthase; Fabry disease; globotriaosylceramide;
Keywords: بیماری فابی; Fabry disease; Williams syndrome; Hurler syndrome; Hunter syndrome; Heerfordt syndrome; Sjögren syndrome;
Keywords: بیماری فابی; Glycosphingolipid; Lysosome; Gaucher disease; Fabry disease; Galactotriaosylsphingosine; Activity-based probe
Keywords: بیماری فابی; BPI; Brief Pain Inventory; Cre; creatinine; ERT; enzyme replacement therapy; EF; ejection fraction; eGFR; estimated glomerular filtration rate; GSL; glycosphingolipids; Gb3; globotriaosyl ceramide; LVMI; left ventricular mass index; MRI; magnetic resonanc
Keywords: بیماری فابی; Fabry disease; Lysosomal storage disorders; Pharmacological chaperone; α-Galactosidase A; Globotriaosylceramide;
Keywords: بیماری فابی; Atrium; Echocardiography; Cardiomyopathy; Fabry disease; A sr; Late diastolic strain rate; E sr; Early diastolic strain rate; LA; Left atrial; LV; Left ventricular; LVEF; Left ventricular ejection fraction; LVH; Left ventricular hypertrophy; S sr; Systoli
Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events
Keywords: بیماری فابی; eGFR; estimated glomerular filtration rate; ERT; enzyme replacement therapy; FOS; Fabry Outcome Survey; LVH; left ventricular hypertrophy; NE; not estimable; Fabry disease; Enzyme replacement therapy; Agalsidase alfa; Long-term effectiveness;
Les nouveaux médicaments en gastro-entérologie, métabolisme-nutrition et pneumologie
Keywords: بیماری فابی; asthme à éosinophiles; constipation induite par les opioïdes; gastro-entérologie; maladie de Fabry; métabolisme-nutrition; pneumologie; eosinophilic asthma; Fabry disease; gastroenterology; metabolism-nutrition; opioid-induced constipation; pulmonolo
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: بیماری فابی; 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;
Genetic Infiltrative Cardiomyopathies
Keywords: بیماری فابی; Amyloidosis; Hemochromatosis; Cardiac oxalosis; Friedreich ataxia; Mucopolysaccharidosis; Fabry disease; Danon disease; PRKAG2 syndrome;
Generation of Fabry cardiomyopathy model for drug screening using induced pluripotent stem cell-derived cardiomyocytes from a female Fabry patient
Keywords: بیماری فابی; RFLP; restriction fragment length polymorphism; TUNEL; TdT-mediated dUTP nick end labeling; PBMC; peripheral blood mononuclear cell; MEF; mouse embryonic fibroblast; BSA; bovine serum albumin; Fabry disease; Fabry cardiomyopathy; Induced pluripotent stem
Analysis of globotriaosylceramide (Gb3) isoforms/analogs in unfractionated leukocytes, B lymphocytes and monocytes from Fabry patients using ultra-high performance liquid chromatography/tandem mass spectrometry
Keywords: بیماری فابی; Fabry disease; Globotriaosylceramide (Gb3); UHPLC-MS/MS; Leukocytes; B lymphocytes; Monocytes;
Synthesis of (3S,4S,5S)-trihydroxylpiperidine derivatives as enzyme stabilizers to improve therapeutic enzyme activity in Fabry patient cell lines
Keywords: بیماری فابی; Iminosugar; Trihydroxylated piperidine; Fabry disease; Enzyme stabilizer; Combinatorial chemistry; Lysosomal α-galactosidase;
Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease
Keywords: بیماری فابی; Lyso-Gb3; Dried blood spots (DBS); Fabry disease; α-Galactosidase A;
Rapid preparation of (3R,4S,5R) polyhydroxylated pyrrolidine-based libraries to discover a pharmacological chaperone for treatment of Fabry disease
Keywords: بیماری فابی; Azasugar; Polyhydroxylated pyrrolidine; Fabry disease; Pharmacological chaperone; Combinatorial chemistry; Lysosomal α-galactosidase;
Compromiso renal en mujeres con enfermedad de Fabry en Argentina. Estudio multicéntrico
Keywords: بیماری فابی; Enfermedad de Fabry; Alfa galactosidasa A; Enfermedad renal crónica; Proteinuria; Fabry disease; Alpha galactosidase A; Chronic kidney disease; Proteinuria;
Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy
Keywords: بیماری فابی; Fabry disease; ERT; Oxidative stress; Cardiomyopathy;
Anti-BlyS antibody reduces the immune reaction against enzyme and enhances the efficacy of enzyme replacement therapy in Fabry disease model mice
Keywords: بیماری فابی; Fabry disease; Enzyme replacement therapy; Anti-BlyS antibody; Immune tolerance induction; Neutralizing antibody;
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
Keywords: بیماری فابی; chronic kidney disease; enzyme replacement therapy; Fabry disease; Fabry nephropathy; standard of care;
Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards
Keywords: بیماری فابی; Sphingoid bases; Fabry disease; Gaucher disease; 13C-encoded internal standards; Mass spectrometry; Quantification;
GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing
Keywords: بیماری فابی; 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;
Plan PrEFiNE: Plan estratégico para la enfermedad de Fabry en Nefrología
Keywords: بیماری فابی; Proyecto PrEFiNE; Enfermedad de Fabry; Enfermedad renal crónica; Diálisis; Trasplante renalPrEFiNE Project; Fabry disease; Chronic kidney disease; Dialysis; Kidney transplant
PrEFiNe Plan: Strategic plan for Fabry's diseases in Nephrology
Keywords: بیماری فابی; PrEFiNE Project; Fabry disease; Chronic kidney disease; Dialysis; Kidney transplant; Proyecto PrEFiNE; Enfermedad de Fabry; Enfermedad renal crónica; Diálisis; Trasplante renal;
Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy
Keywords: بیماری فابی; Magnetic resonance imaging; Late enhancement; Myocardium; Fabry disease; Hypertrophic cardiomyopathy;
Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency
Keywords: بیماری فابی; Fabry disease; Lysosomal α-galactosidase A; Lysosomal storage diseases; Enzyme replacement therapy; Pharmacological chaperone; Pyrrolidine-based iminosugar;
Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients
Keywords: بیماری فابی; 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
Il vaut mieux un bon coup d'Åil que se creuser les méninges !
Keywords: بیماری فابی; Maladie de Fabry; Manifestations neurologiques; Cardiomyopathie hypertrophique; Fabry disease; Neurologic manifestations; Hypertrophic cardiomyopathy;
The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain
Keywords: بیماری فابی; Gb3; globotriaosylceramide; Lyso-Gb3; lyso-globotriaosylceramide; GLA; gene encoding alpha galactosidase A; HBSS; HEPES buffered saline; PBS; phosphate buffered saline; Pain; Calcium imaging; Voltage-dependent Ca2+ channels; Fabry disease; Dorsal root gan
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack
Keywords: بیماری فابی; Fabry disease; GLA gene variants; Acute ischemic stroke; Screening in epidemiology
Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma
Keywords: بیماری فابی; Fabry disease; α-Galactosidase A; GLA gene; Biomarker; Gb3; Lyso-Gb3 analogs;
NefropatÃas hereditarias y congénitas
Keywords: بیماری فابی; NefropatÃas congénitas; NefropatÃas hereditarias; NefropatÃas quÃsticas; Alport; Fabry; Congenital nephritis; Hereditary nephritis; Cystic diseases; Alport nephritis; Fabry disease;
Klinefelter Syndrome with Fabry Disease – a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation
Keywords: بیماری فابی; Klinefelter syndrome; Nondisjunction of the X-chromosome; Fabry disease; Cardiomyopathy; Homozygous sex-linked recessive mutation.
Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease
Keywords: بیماری فابی; Akt; protein kinase B; Bp; base pair; cDNA; DNA complementary to RNA; CT; threshold cycle number; ERK; extracellular signal-regulated kinase; FSGD; fish specific genome duplication; GH; growth hormone; GHR; growth hormone receptor; JAK; Janus kinase; mRNA