دانلود مقالات ISI درباره آنزیم جایگزین درمان + ترجمه فارسی

Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project

Keywords: آنزیم جایگزین درمان; BUA; broadband ultrasound attenuation; BMD; bone mineral density; CCL18/PARC; chemokine (C-C motif) ligand 18/pulmonary and activation-regulated chemokine; CHITO; chitotriosidase; ERT; enzyme replacement therapy; DXA; dual X-ray absorptiometry; EMG; elect

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease

Keywords: آنزیم جایگزین درمان; MPS VII; Urinary GAG; Enzyme replacement therapy; Blind Start study design; Multi-domain responder index; Vestronidase alfa;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

Keywords: آنزیم جایگزین درمان; ERT; enzyme replacement therapy; GD; Gaucher disease; GD1; type 1 Gaucher disease; GD2; type 2 Gaucher disease; GD3; type 3 Gaucher disease; GOS; Gaucher Outcome Survey; IQR; interquartile range; MN; multiples of normal; SRT; substrate reduction therapy;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

Neurophysiology of hearing in patients with mucopolysaccharidosis type IV

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis IV; Auditory system; Electrophysiology; Audiological testing; Hearing impairment/loss; MPS; mucopolysaccharidosis; ABR; auditory brainstem response; DPOAE; distortion products of otoacoustic emission; MEMR; middle ear muscle reflex;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion tensor MR imaging

Keywords: آنزیم جایگزین درمان; WM; white matter; Type I GD; type I Gaucher disease; TD; typical development; DTI; diffusion tensor Imaging; FA; fractional anisotropy; MD; mean diffusivity; AD; Axial diffusivity; RD; radial diffusivity; GBA; beta-glucocerebrosidase; ERT; enzyme replacem

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2018 سفارش ترجمه

Impact of loss of SOAT2 function on disease progression in the lysosomal acid lipase-deficient mouse

Keywords: آنزیم جایگزین درمان; CESD; cholesteryl ester storage disease; DKO; double knockout; EC; esterified cholesterol; ERT; enzyme replacement therapy; LAL; lysosomal acid lipase; LCAT; lecithin:cholesterol transferase; SOAT1; sterol O-acyltransferase 1; SOAT2; sterol O-acyltransfer

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2018 سفارش ترجمه

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

Keywords: آنزیم جایگزین درمان; Alpha-mannosidosis; Velmanase alfa; Enzyme-replacement therapy; Global treatment response model; OMIM 248500; Enzyme Commission number: 3.2.1.24; 3MSCT; 3-min stair climb test; 6MWT; 6-min walking test; BMI; body mass index; BOT-2; Bruininks-Oseretsky Tes

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

Immunogenicity to cerliponase alfa intracerebroventricular enzyme replacement therapy for CLN2 disease: Results from a Phase 1/2 study

Keywords: آنزیم جایگزین درمان; Cerliponase alfa; Enzyme replacement therapy; CLN2; Neuronal ceroid lipofuscinosis; Anti-drug antibodies; Hypersensitivity; Immunogenicity; ADA; anti-drug antibody; ICV; intracerebroventricular.; ML; motor-language.; NAb; neutralizing anti-drug antibody.;

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

Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment

Keywords: آنزیم جایگزین درمان; Morquio A; Mucopolysaccharidosis IVA; Long-term extension; Elosulfase alfa; 3MSCT; 3-min stair climb test; 6MWT; 6-min walk test; AE; adverse event; AUC0−t; area under the curve from time 0 to last measurable concentration; AUCinf; area under the curve

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

Pharmacokinetics and pharmacodynamics of PEGylated truncated human cystathionine beta-synthase for treatment of homocystinuria

Keywords: آنزیم جایگزین درمان; Preclinical studies; Enzyme replacement therapy; Safety; Toxicity; Pharmacokinetic modeling;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease

Keywords: آنزیم جایگزین درمان; GD1; Gaucher disease type 1; AVN; avascular necrosis; BMD; bone mineral density; GD; Gaucher disease; ERT; enzyme replacement therapy; SRT; substrate reduction therapy; DEXA; dual energy X-ray absorptiometry; CCL18; chemokine (C-C motif) ligand 18; MIP1-Î

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

Sebelipase alfa improves atherogenic biomarkers in adults and children with lysosomal acid lipase deficiency

Keywords: آنزیم جایگزین درمان; Lysosomal acid lipase deficiency; Sebelipase alfa; Dyslipidemia; Enzyme replacement therapy; Wolman disease; Cholesteryl ester storage disease;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis type II; Enzyme replacement therapy; ERT; Idursulfase; Glycosaminoglycans; Adult; Systematic review;

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

Children with type 1 Gaucher disease: Changing profiles in the 21st century

Keywords: آنزیم جایگزین درمان; Ashkenazi Jewish; Enzyme replacement therapy; Genotype-phenotype correlation; Height growth; Large-scale screening;

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2018 سفارش ترجمه

Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis-I; Alpha-iduronidase; Dried blood spot; Saliva; Hematopoietic stem cell transplantation; Enzyme replacement therapy;

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2018 سفارش ترجمه

Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage

Keywords: آنزیم جایگزین درمان; 8-OHdG; 8-hydroxy-2′-deoxyguanosine; 8-OHG; 8-hydroxyguanosine; 8-OHGn; 8-hydroxyguanine; BMCyt; buccal micronucleus cytome; BUD; nuclear bud; DI; damage index; ERT; enzyme replacement therapy; GAG; glycosaminoglycan; LSD; lysosmal storage disorders; MP

دانلود رایگان متن کامل مقاله ISI 17 صفحه سال انتشار : 2018 سفارش ترجمه

Efficient therapy for refractory Pompe disease by mannose 6-phosphate analogue grafting on acid α-glucosidase

Keywords: آنزیم جایگزین درمان; Lysosomal storage disease; Enzyme replacement therapy; Alpha acid glucosidase; Mannose 6-phosphate receptor targeting;

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2018 سفارش ترجمه

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis IVA; N-acetylgalactosamine-6-sulfate; Keratan sulfate; Chondroitin-6-sulfate; Spondyloepiphyseal dysplasia; 3-MSCT; 3-Minute Stair Climb Test; 4MU-Gal6S; 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate; 6-MWT; 6-Minute Walk Tes

دانلود رایگان متن کامل مقاله ISI 95 صفحه سال انتشار : 2018 سفارش ترجمه

Origin of α-mannosidase activity in CSF

Keywords: آنزیم جایگزین درمان; AD; Alzheimer's disease; BBB; blood-brain barrier; CSF; cerebrospinal fluid; DLB; dementia with Lewy bodies; ERT; enzyme replacement therapy; EV; extracellular vesicles; FTD; Fronto-Temporal Dementia; LP; lumbar puncture; MAN2B1; lysosomal α-mannosidas

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2017 سفارش ترجمه

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease

Keywords: آنزیم جایگزین درمان; 6MWT; 6-minute walk test; AE; adverse event; CI-MPR; cation-independent mannose-6-phosphate receptor; CK; creatine kinase; CRIM; cross-reactive immunologic material; ERT; enzyme replacement therapy; GAA; acid alpha-glucosidase; Glc4; glucose tetrasacchari

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis; Asian; Enzyme replacement therapy; Idursulfase beta;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease

Keywords: آنزیم جایگزین درمان; ERT; enzyme replacement therapy; rhGAA; recombinant human acid-α-glucosidase; CRIM; cross-reactive immunologic material; HSAT; high and sustained antibody titer; MTX; methotrexate; SVP-Rapa; synthetic vaccine particles carrying rapamycin; NP; empty nanop

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis type I; Enzyme replacement therapy; Immune tolerance; Laronidase; Hurler syndrome; Anti-drug antibodies;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Keywords: آنزیم جایگزین درمان; ASB; Arylsulfatase B; CDC; Centers for Disease Control and Prevention; ERT; Enzyme replacement therapy; GAG; Glycosaminoglycans; MPS VI; Mucopolysaccharidosis VI; uGAG; Urinary glycosaminoglycans; Mucopolysaccharidosis; Mucopolysaccharidosis VI; Maroteaux

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Keywords: آنزیم جایگزین درمان; GAA; acid alpha-glycosidase; ERT; enzyme replacement therapy; FVC; forced vital capacity; MIP; maximum inspiratory pressure; MEP; maximum expiratory pressure; MFM; Motor Measure Function scale; Pompe disease; Advanced; Respiratory failure; Enzyme replacem

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

Keywords: آنزیم جایگزین درمان; Case report; Deficient N-acetylgalactosamine 4-sulfatase; Enzyme replacement therapy; Galsulfase; Glycosaminoglycan; Mucopolysaccharidosis type VI; ASB; N-acetylgalactosamine 4-sulfatase; ECHO; echocardiography; ERT; enzyme replacement therapy; fT4; free

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

Anti-BlyS antibody reduces the immune reaction against enzyme and enhances the efficacy of enzyme replacement therapy in Fabry disease model mice

Keywords: آنزیم جایگزین درمان; Fabry disease; Enzyme replacement therapy; Anti-BlyS antibody; Immune tolerance induction; Neutralizing antibody;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels

Keywords: آنزیم جایگزین درمان; 8-OHdG; 8-hydroxy-2′-deoxyguanosine; Cr; creatinine; DI; damage index; DTNB; 5,5′-dithiobis(2-nitrobenzoic acid); Endo III; endonuclease III; ELISA; enzyme-linked immunoassay; ERT; enzyme replacement therapy; FU; fluorescence units; GAGs; glycosaminog

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

Keywords: آنزیم جایگزین درمان; CNS; Central nervous system; DBS; Dried blood spot; ERT; Enzyme replacement therapy; GAG; Glycosaminoglycan; HSCT; Hematopoietic stem cell transplantation; IDUA; α-L-iduronidase; MPS; Mucopolysaccharidoses; MPS I; Mucopolysaccharidosis type I; MRI; Magne

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials

Keywords: آنزیم جایگزین درمان; β-GC; β-glucocerebrosidase; CCL18; chemokine (C-C motif) ligand 18; ERT; enzyme replacement therapy; GD; Gaucher disease; lyso-Gb1; glucosylsphingosine; MN; multiples of normal; Gaucher disease; Glucosylsphingosine; Lyso-Gb1; Velaglucerase alfa; Enzyme

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Correlation between urinary GAG and anti-idursulfase ERT neutralizing antibodies during treatment with NICIT immune tolerance regimen: A case report

Keywords: آنزیم جایگزین درمان; Lysosomal storage disease; Mucopolysaccharidosis II; Enzyme replacement therapy; Glycosaminoglycans; Idursulfase; Neutralizing antibodies;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis II; Hunter syndrome; Hematopoietic stem cell transplantation; Enzyme replacement therapy; Iduronate-2-sulfatase;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

Keywords: آنزیم جایگزین درمان; NBS; Newborn screening; IOPD; Infantile onset Pompe disease; LOPD; Late onset Pompe disease; GAA; Acid α-glucosidase; ERT; Enzyme replacement therapy; RUSP; Recommended uniform screening panel; CK; Creatine kinase; Glc4; Urinary glucose tetrasaccharide;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Jak rozpoznawać i leczyć chorobę Gauchera: zarys patofizjologii, objawów klinicznych, metod diagnostycznych i leczenia

Keywords: آنزیم جایگزین درمان; glukocerebrozydaza; choroba Gauchera; badanie szpiku kostnego; komórka Gauchera; enzymatyczna terapia zastępcza; Glucocerebrosidase; Gaucher disease; Bone marrow examination; Gaucher cell; Enzyme replacement therapy;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Original articleLongitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease

Keywords: آنزیم جایگزین درمان; Infantile-onset Pompe disease; Speech disorder; Articulation disorder; Hypernasality; Speech intelligibility; Enzyme replacement therapy; AROM; active range of motion; CRIM; cross-reactive immunologic material; ERT; enzyme replacement therapy; FEES; fiber

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Potential of surfactant-coated nanoparticles to improve brain delivery of arylsulfatase A

Keywords: آنزیم جایگزین درمان; Metachromatic leukodystrophy; Lysosomal storage disease; Enzyme replacement therapy; Blood-brain barrier; Polymeric nanoparticles; Surfactant coating;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2017 سفارش ترجمه

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Keywords: آنزیم جایگزین درمان; chronic kidney disease; enzyme replacement therapy; Fabry disease; Fabry nephropathy; standard of care;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2017 سفارش ترجمه

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI

Keywords: آنزیم جایگزین درمان; MPS; mucopolysaccharidosis; MPS VI; mucopolysaccharidosis type VI; GAG; glycosaminoglycan; AP; anteroposterior; Lau; Lauenstein; ERT; enzyme replacement therapy; HSCT; hematopoietic stem-cell transplantation; AI; acetabular index; NSA; neck shaft angle; S

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2017 سفارش ترجمه

Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis

Keywords: آنزیم جایگزین درمان; ERT; enzyme replacement therapy; MPS-I; Muchopolysaccharidosis Type I; GAG; glycosaminoglycan; uGAGs; urine glycosaminoglycans; 6MWT; 6-min walking test; HSCT; hematopoietic stem cell transplantation; FVC; forced vital capacity; VA; visual acuity; NHA; no

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2017 سفارش ترجمه

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Keywords: آنزیم جایگزین درمان; MPS IVA; Mucopolysaccharidosis type 4 -A; GALNS; N-acetylgalactosamine-6-sulfatase; GAGs; Glycosaminoglycans; NRC; National Research Centre; MPSs; Mucopolysaccharidoses; GLB1; β-Galactosidase; KS; Keratan Sulfate; C6S; Chondroitin-6-Sulfate; kDa; Kilo

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2017 سفارش ترجمه

Mucopolysaccharidoses seen in adults in rheumatology

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidoses; Lysosomal storage diseases; Joint contractures; Spondyloepiphyseal dysplasia; Rare diseases; Enzyme replacement therapy;

دانلود رایگان متن کامل مقاله ISI 25 صفحه سال انتشار : 2017 سفارش ترجمه

Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India

Keywords: آنزیم جایگزین درمان; LSDs; Lysosomal Storage Disorders; CT; Chitotriosidase; GD; Gaucher disease; NPD A/B; Niemann Pick disease A/B; ERT; Enzyme Replacement Therapy; Chitotriosidase; Gaucher; Niemann Pick A/B; Lysosomal Storage Disorders;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2016 سفارش ترجمه

SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease

Keywords: آنزیم جایگزین درمان; Pompe disease; Enzyme replacement therapy; Hypersensitivity; Desensitization; Simplified protocol;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2016 سفارش ترجمه

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study

Keywords: آنزیم جایگزین درمان; Late-onset Pompe disease; Limb-girdle muscle weakness; HyperCKemia; Dried blood spots; Enzyme replacement therapy;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Monitoring of dipeptidyl peptidase-IV (DPP-IV) activity in patients with mucopolysaccharidoses types I and II on enzyme replacement therapy - Results of a pilot study

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis type I; Mucopolysaccharidosis type II; DPP-IV; Enzyme replacement therapy; Biomarker;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis (MPS); Physical Symptom Score (PSS); Somatic disease burden; Neuropsychological measures; Enzyme replacement therapy

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Selenoureido-iminosugars: A new family of multitarget drugs

Keywords: آنزیم جایگزین درمان; Glycosidase inhibition; Iminosugars; Selenoureas; AChE inhibition; Antioxidant; GPx mimic; AChE; acetylcholinesterase; CCT; chemical chaperone therapy; DNJ; 1-deoxynojirimycin; ERT; enzyme replacement therapy; GBA1; β-glucosidase acid 1; GI50; growth inh

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

Pharmacotherapy of inborn errors of metabolism illustrating challenges in orphan diseases

Keywords: آنزیم جایگزین درمان; Enzyme replacement therapy; Diet; Inborn errors of metabolism; Orphan diseases; Pharmacotherapy; Scavenger;

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

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years

Keywords: آنزیم جایگزین درمان; Late-onset Pompe disease; LOPD; Enzyme replacement therapy; Alpha glucosidase deficiency; Myozyme;

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

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: آنزیم جایگزین درمان; Fabry disease; Lysosomal α-galactosidase A; Lysosomal storage diseases; Enzyme replacement therapy; Pharmacological chaperone; Pyrrolidine-based iminosugar;

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