Keywords: ERT، درمان جایگزینی آنزیم; ERT, enzyme replacement therapy; GAG, glycosaminoglycan; HSCT, hematopoietic stem cell transplantation; MPS, mucopolysaccharidosisElosulfase alfa; Enzyme replacement therapy; Mucopolysaccharidoses; Pregnancy
مقالات ISI ERT، درمان جایگزینی آنزیم (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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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: ERT، درمان جایگزینی آنزیم; ADA, Adenosine deaminase; ADA-SCID, ADA deficient SCID; CBA, Cost-benefit analysis; CEA, Cost-effectiveness analysis; DBS, Dried blood spot; ERT, Enzyme replacement therapy; HCT, Hematopoietic cell transplantation; ICER, Incremental cost-effectiveness rat
Keywords: ERT، درمان جایگزینی آنزیم; GD, Gaucher disease; HCC, hepatocellular carcinoma; MRI, magnetic resonance imaging; CT, computed tomography; US, ultrasound; FNH, focal nodular hyperplasia; SSI, severity score index; ERT, enzyme replacement therapy; SRT, substrate reduction therapyGauch
Keywords: ERT، درمان جایگزینی آنزیم; PA, propionic acidemia; PCC, propionyl coenzyme-A carboxylase; PP-CoA, propionyl coenzyme-A; CPPs, cell penetrating peptides; MTS, mitochondria targeting sequences; ERT, enzyme replacement therapy; MPP, mitochondrial processing peptidase; LAD, lipoamine d
Keywords: ERT، درمان جایگزینی آنزیم; GCase, glucocerebrosidase; GD, Gaucher’s disease; RDP, rabies-derived peptide; TTC, tetanus toxin fragment C; IgAh, peptide from flexible hinge region of IgA; ERT, enzyme replacement therapy; GlcCer, glucosylceramide; GlcSph, glucosylsphingosine; 4-MUG, 4
Keywords: ERT، درمان جایگزینی آنزیم; ERT, Enzyme replacement therapy; FEV0.5, forced expiratory volume in 0.5 s; FVC, forced vital capacity; GAGs, glycosaminoglycans; HSCT, hematopoietic stem cell transplantation; IV, intravenous; MMEF, maximum midexpiratory flow; MPS-I, mucopolysaccharidosi
Keywords: ERT، درمان جایگزینی آنزیم; ANOVA, analysis of variance; BMI, body mass index; CO2, carbon dioxide; CS, chondroitin sulfate; C6S, chondroitin-6-sulfate; CV, coefficient of variation; ERT, enzyme replacement therapy; FDA, Food and Drug Administration; FEV1, forced expiratory volume i
Keywords: ERT، درمان جایگزینی آنزیم; ACEI, Angiotensin-converting enzyme inhibitor; ARB, Angiotensin receptor blocker; CI, Confidence interval; eGFR, Estimated glomerular filtration rate; ERT, Enzyme replacement therapy; FOS, Fabry Outcome Survey; LVH, Left ventricular hypertrophy; LVMI, Lef
Keywords: ERT، درمان جایگزینی آنزیم; 6MWT, Six minute walking test; BAER, Brainstem auditory evoked responses; CNS, Central nervous system; EF, Ejection fraction; ERT, Enzyme replacement therapy; ENT, Ear nose and throat; GAGs, Glycosaminoglycans; HAQ, Health Assessment Questionnaire; I2S, I
Keywords: ERT، درمان جایگزینی آنزیم; GBA, glucocerebrosidase; GD3, chronic neuronopathic Gaucher disease; ERT, enzyme replacement therapy; MRI, magnetic resonance imaging; CT, computed tomography; EEG, electroencephalogram; BAER, brainstem auditory evoked potentials; Hb, haemoglobin concentr
Keywords: ERT، درمان جایگزینی آنزیم; ASPA, aspartoacylase; BBB, blood–brain barrier; CD, Canavan disease; CNS, central nervous system; ERT, enzyme replacement therapy; GFAP, glial fibrillary acidic protein; IBA, ionized calcium binding adaptor protein-1; NAA, N-acetyl-l-aspartate; NECA, 1-(6
Keywords: ERT، درمان جایگزینی آنزیم; GlucCer, glucosylceramide; Cer, ceramide; ERT, Enzyme replacement therapy; Gb3, globotriaosylceramide; GSL, glycosphingolipid; LSD, lysosomal storage disease; Lyso-Gb3, globotriaosylsphingosineFabry disease; Enzyme replacement therapy; Ceramide; Glucosylc
Keywords: ERT، درمان جایگزینی آنزیم; DS, dermatan sulfate; ECM, extracellular matrix; ERT, enzyme replacement therapy; GAG, glycosaminoglycan; HSCT, hematopoietic stem cell therapy; HS, heparan sulfate; I2S, iduronate 2-sulfatase; LSD, lysosomal storage disorder; MPS II, mucopolysaccharidosi
Keywords: ERT، درمان جایگزینی آنزیم; DS, dermatan sulfate; ECM, extracellular matrix; ERT, enzyme replacement therapy; GAG, glycosaminoglycan; HSCT, hematopoietic stem cell therapy; HS, heparan sulfate; I2S, iduronate 2-sulfatase; LSD, Lysosomal storage disorder; MPS II, mucopolysaccharidosi
The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences
Keywords: ERT، درمان جایگزینی آنزیم; Card, cardiologist; ENT, ear nose and throat; ERT, enzyme replacement therapy; EU, Europe; GAG, glycosaminoglycan; Gen Pract, general practitioner; Gen/Met Dis, geneticist/metabolic disease specialist; HSCT, hematopoietic stem cell transplant; IDUA, α-l-i
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
Keywords: ERT، درمان جایگزینی آنزیم; MPS, mucopolysaccharidosis; ASB, N-acetylgalactosamine 4-sulfatase; GAG, glycosaminoglycan; ERT, enzyme replacement therapy; Galsulfase, recombinant human N-acetylgalactosamine 4-sulfatase; Z score, standard deviation score; 6MWT, 6-minute walk test; 3MSC
Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts
Keywords: ERT، درمان جایگزینی آنزیم; CI-M6PR, cation-independent M6P receptor; CM, conditioned medium; ERT, enzyme replacement therapy; GM2, GM2 ganglioside; GM2A, GM2 activator protein; Hex, β-hexosaminidase; LAMP-1, lysosomal associated membrane protein 1; LSD, lysosomal storage disease; M
DNA damage in Fabry patients: An investigation of oxidative damage and repair
Keywords: ERT، درمان جایگزینی آنزیم; 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
Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy
Keywords: ERT، درمان جایگزینی آنزیم; LOPD, late onset Pompe disease; ERT, enzyme replacement therapy; rhGAA, human recombinant alpha-glucosidase; MRI, magnetic resonance imagingPompe disease; Myopathy; MRI; Muscle imaging; Muscle volume; Enzyme replacement therapy
Mutations in ARSB in MPS VI patients in India
Keywords: ERT، درمان جایگزینی آنزیم; ARSB, arylsulfatase B; ERT, enzyme replacement therapy; GALNS, N-acetyl galactosamine 6-sulfatase; GAG, glycosaminoglycan; HSCT, hematopoietic stem cell transplantation; HGMD, Human Gene Mutation Database; LSD, lysosomal storage disorder; MPS, mucopolysac
A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies
Keywords: ERT، درمان جایگزینی آنزیم; mtDNA, mitochondrial DNA; SUCL, succinate-CoA ligase; ETC, electron transport chain; MMA, methylmalonic acidemia; MCAs, multiple congenital anomalies; RC, respiratory chain; ERT, enzyme replacement therapy; PEO, progressive external ophthalmoplegiaMitocho
Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots
Keywords: ERT، درمان جایگزینی آنزیم; 4-MU, 4-methylumbelliferone; 4-MU-β-gal-S, 4-methylumbelliferyl-β-d-galactopyranoside sulfate sodium salt; β-Gal, β-galactosidase; BSA, bovine serum albumin; DBS, dried-blood spot; ERT, enzyme replacement therapy; GAG, glycosaminoglycan; GALNS, n-acetylga
An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke
Keywords: ERT، درمان جایگزینی آنزیم; cDNA, complementary DNA; CT, computed tomography; db SNP, Single Nucleotide Polymorphism Database; DNA, deoxyribonucleic acid; ERT, enzyme replacement therapy; GLA, α galactosidase A; MRI, magnetic resonance imaging; mRNA, messenger ribonucleic acid; PCR,
Lysosome-associated protein 1 (LAMP-1) and Lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease
Keywords: ERT، درمان جایگزینی آنزیم; 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
Non-depleting anti-CD4 monoclonal antibody induces immune tolerance to ERT in a murine model of Pompe disease
Keywords: ERT، درمان جایگزینی آنزیم; GAA, acid-α-glucosidase; ERT, enzyme replacement therapy; IPD, infantile Pompe disease; CRIM, cross-reacting immunologic material; ITI, immune tolerance induction; MTX, methotrexatePompe disease; Anti-CD4 antibody; Antigen-specific immune tolerance; Enzym
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
Keywords: ERT، درمان جایگزینی آنزیم; ERT, enzyme replacement therapy; mtDNA, mitochondrial DNAMitochondrial disease; mtDNA depletion; Gaucher disease; Neurohepatic
Sphingolipids and lysosomal pathologies
Keywords: ERT، درمان جایگزینی آنزیم; ASM, acid sphingomyelinase; BMP, bis(monoacylglycero)phosphate; Cer, ceramide; ER, endoplasmic reticulum; ERT, enzyme replacement therapy; ESCRT, endosomal sorting complex required for transport; FA, fatty acid; GalCer, galactosylceramide; GlcCer, glucosy
Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring
Keywords: ERT، درمان جایگزینی آنزیم; bp, base pairs; ChT, chitotriosidase; eow, every other week; dup24, c.1049_1072dup24; ERT, enzyme replacement therapy; GD, Gaucher disease; 4MU-chitotrioside, 4-methylumbelliferyl-β-D-N,N′,N″triacetylchitotrioside; SSI, severity score index; NEGdup24, neg
Relationship of Sleep to Pulmonary Function in Mucopolysaccharidosis II
Keywords: ERT، درمان جایگزینی آنزیم; AHI, Apnea-hypopnea index; BMI, Body mass index; CPAP, Continuous positive airway pressure; ETCO2, End-tidal carbon dioxide; ERT, Enzyme replacement therapy; FEV1, Forced expiratory volume in 1 second; FEV1 %, Forced expiratory volume in 1 second – percen
Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease
Keywords: ERT، درمان جایگزینی آنزیم; iNKT, invariant natural killer T; α-GalCer, α-galactosylceramide; Gb3, globotriaosylceramide; ERT, enzyme replacement therapy; PMA, phorbol 12-myristate 13-acetate; TCR, T cell receptorLysosomal storage disorders; Fabry disease; Enzyme replacement therapy
Altered innate function of plasmacytoid dendritic cells restored by enzyme replacement therapy in Gaucher disease
Keywords: ERT، درمان جایگزینی آنزیم; DC, dendritic cells; mDC, myeloid dendritic cells; pDC, plasmacytoid dendritic cells; ERT, enzyme replacement therapy; GD, Gaucher disease; TLR, toll-like receptorGaucher disease; Dendritic cells; Toll-like receptor; Memory T cells
Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis
Keywords: ERT، درمان جایگزینی آنزیم; BMEF, bone marrow extracellular fluid; ERT, enzyme replacement therapy; FACE, fluorophore-assisted carbohydrate electrophoresis; GS, galactosialidosis; IHC, immunohistochemistry; KO, knockout; KO/TG, knockout–transgenic; LSD, lysosomal storage disease; PC
Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study
Keywords: ERT، درمان جایگزینی آنزیم; CI, confidence interval; CT, computed tomography; ERT, enzyme replacement therapy; GD/GD1, Gaucher disease/Gaucher disease type 1; MRI, magnetic resonance imaging; SD, standard deviation; SRT, substrate reduction therapyGaucher disease; Miglustat; Outcome
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III
Keywords: ERT، درمان جایگزینی آنزیم; MPSs, mucopolysaccharidoses; LSDs, lysosomal storage disorders; GAGs, glycosaminoglycans; HSCT, hematopoietic stem cell transplantation; ERT, enzyme replacement therapy; MPS IIIA, mucopolysaccharidosis type III A; NBS, newborn screening; DBS, dried blood
An improved method for glycosaminoglycan analysis by LC–MS/MS of urine samples collected on filter paper
Keywords: ERT، درمان جایگزینی آنزیم; BMT, Bone marrow transplant; CHUS, Centre hospitalier universitaire de Sherbrooke; DS, Dermatan sulfate; ERT, Enzyme replacement therapy; ESI+, Electrospray ionization in positive ion mode; GAGs, Glycosaminoglycans; Gb3, Globotriaosylceramide; HS, Heparan
Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model
Keywords: ERT، درمان جایگزینی آنزیم; ERT, enzyme replacement therapy; iNKT, invariant Natural Killer TiNKT; Fabry disease; Lysosomal storage diseases; Enzyme replacement therapy
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry
Keywords: ERT، درمان جایگزینی آنزیم; ABG, Acid-β-Glucosidase; CDC, Center for Disease Control and Prevention; CNS, Central Nervous System; DBS, Dry Blood Spot(s); EDTA, Ethylenediaminetetraacetic Acid; ERT, Enzyme Replacement Therapy; GBA, Glucocerebrosidase; GD, Gaucher Disease; LSD, Lysoso
Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage
Keywords: ERT، درمان جایگزینی آنزیم; CT, chitotriosidase; DG, discontinuation group; EGA, European Gaucher Alliance; ERT, enzyme replacement therapy; EU, European Union; EWGGD, European Working Group for Gaucher Disease; FEETEG, Spanish Gaucher Disease Foundation; GD, Gaucher disease; RG, re
Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease
Keywords: ERT، درمان جایگزینی آنزیم; BMD, bone mineral density; DEXA, dual energy X-ray absorptiometry; EOW, every other week; ERT, enzyme replacement therapy; FDA, Food and Drug Administration; FN, femoral neck; ICGG, International Collaborative Gaucher Group; LS, lumbar spine; MRI, magneti
Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease
Keywords: ERT، درمان جایگزینی آنزیم; ASPA, aspartoacylase; CD, Canavan disease; ERT, enzyme replacement therapy; NAA, N-acetyl-l-aspartate; PEG, polyethylene glycolCanavan disease; Aspartoacylase; Enzyme replacement therapy; PEGylation; Animal model
Significant and continuous improvement in bone mineral density among type 1 Gaucher disease patients treated with velaglucerase alfa: 69-month experience, including dose reduction
Keywords: ERT، درمان جایگزینی آنزیم; BMD, bone mineral density; DXA, dual energy X-ray absorptiometry; EOW, every other week; ERT, enzyme replacement therapy; FDA, Food and Drug Administration; FN, femoral neck; GD1, type 1 Gaucher disease; ICGG, International Collaborative Gaucher Group; LS
Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy
Keywords: ERT، درمان جایگزینی آنزیم; CAT, catalase; ERT, enzyme replacement therapy; GAGs, glycosaminoglycans; LSD, lysosomal storage diseases; MDA, malondialdehyde; MPS, mucopolysaccharidoses; SOD, superoxide dismutase; TAS, total antioxidant statusMucopolysaccharidosis type II; Lysosomal s
Cardiovascular Events in Patients With Fabry Disease : Natural History Data From the Fabry Registry
Keywords: ERT، درمان جایگزینی آنزیم; cardiomyopathy; Fabry disease; hypertension; left ventricular hypertrophy; lysosomal storage diseasesCI, confidence interval; CV, cardiovascular; ERT, enzyme replacement therapy; GL-3, globotriaosylceramide; HF, heart failure; LVH, left ventricular hypert
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy
Keywords: ERT، درمان جایگزینی آنزیم; eNOS, endothelial nitric oxide synthase; ERT, enzyme replacement therapy; Gb2, galabiosylceramide; Gb3, globotriaosylceramide; GLA gene, α-galactosidase A gene; LVH, left ventricular hypertrophy; lysoGb3, globotriaosylsphingosine; OPA, o-phtaldialdehydeFa
Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS)
Keywords: ERT، درمان جایگزینی آنزیم; CSA, conformation-specific anti-idursulfase antibody assay; ELISA, enzyme-linked immunosorbent assay; ERT, enzyme replacement therapy; GAG, glycosaminoglycan; HOS, Hunter Outcome Survey; I2S, iduronate-2-sulfatase; HRP, horseradish peroxidase; Ig, immunog
24-Months results in two adults with Pompe disease on enzyme replacement therapy
Keywords: ERT، درمان جایگزینی آنزیم; AFT, arm function test; AMD, acid maltase deficiency; ERT, enzyme replacement therapy; FAA, functional activities assessment; FVC, forced vital capacity; GAA, acid alpha-glucosidase; LOTS, late onset treatment study; MVC, maximal voluntary contraction; Nm
A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
Keywords: ERT، درمان جایگزینی آنزیم; GD, Gaucher disease; GD1, type 1 Gaucher disease; GD2, type 2 Gaucher disease; GD3, type 3 Gaucher disease; PME, progressive myoclonic epilepsy; GBA, glucocerebrosidase; ERT, enzyme replacement therapy; SRT, substrate reduction therapy; OMA, oculomotor ap
Treatment of canine fucosidosis by intracisternal enzyme infusion
Keywords: ERT، درمان جایگزینی آنزیم; CSF, Cerebrospinal fluid; ERT, enzyme replacement therapy; ESS, English Springer Spaniels; CNS, central nervous system; MPS, mucopolysaccharidosis; AET, affected enzyme treated; AVT, affected vehicle treated; CVT, control vehicle treated; ELISA, enzyme li
Distribution of acid sphingomyelinase in rodent and non-human primate brain after intracerebroventricular infusion
Keywords: ERT، درمان جایگزینی آنزیم; BSA, bovine serum albumin; CSF, cerebrospinal fluid; ELISA, enzyme-linked immunosorbent assay; ERT, enzyme replacement therapy; Gd, gadoteridol; GDNF, glial cell line-derived neurotrophic factor; HRP, horseradish peroxidase; ICP, intracranial pressure; IC
Enzyme replacement reduces neuropathology in MPS IIIA dogs
Keywords: ERT، درمان جایگزینی آنزیم; ABTS, 2,2′-azino-bis(3-ethylbenzthiazoline-6-sulphonic acid; CNS, central nervous system; CSF, cerebrospinal fluid; CV, co-efficient of variance; DAB, diaminobenzidine; ELISA, enzyme-linked immunosorbent assay; ERT, enzyme replacement therapy; GM3, gangli