دانلود مقالات ISI درباره آنزیم جایگزین درمان + ترجمه فارسی

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

Keywords: آنزیم جایگزین درمان; FJD; Fundación Jiménez Díaz; GD; Gaucher disease; GBA; acid β-glucosidase; ERT; enzyme replacement therapy; Spanish Gaucher disease; Gaucher disease; GBA gene; Chitotriosidase;

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

A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA

Keywords: آنزیم جایگزین درمان; AE; adverse event; BSID-III; Bayley Scales of Infant and Toddler Development, Third Edition; CSF; cerebrospinal fluid; CNS; central nervous system; DQ; developmental quotient; EC; Enzyme Commission; ELISA; enzyme-linked immunosorbent assay; GAG; glycosami

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

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

Keywords: آنزیم جایگزین درمان; 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

Original ArticlesOutcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I

Keywords: آنزیم جایگزین درمان; MPS I; mucopolysaccharidosis type I; enzyme replacement therapy; laronidase; 6MWT; 6-minute walk test; ERT; Enzyme replacement therapy; FVC; Forced vital capacity; GAG; Glycosaminoglycan; MPS I; Mucopolysaccharidosis type I; uGAG; Urinary glycosaminoglyca

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2016 سفارش ترجمه

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry

Keywords: آنزیم جایگزین درمان; eGFR; estimated glomerular filtration rate; ERT; enzyme replacement therapy; ESRD; end-stage renal disease; GL-3; globotriaosylceramide; IEC; independent ethics committee; IRB; institutional review board; LVH; left ventricular hypertrophy; UP/Cr; urinary

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2016 سفارش ترجمه

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

Keywords: آنزیم جایگزین درمان; 6MWT; 6-Minute Walk Test; AE; adverse event; BMI; body mass index; CI; confidence interval; ERT; enzyme replacement therapy; FVC; forced vital capacity; GAA; α-glucosidase; HRLM; high-resolution light microscopy; PFT; pulmonary function testing; GMFCS-E&

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2016 سفارش ترجمه

Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation

Keywords: آنزیم جایگزین درمان; 3-NT; 3-nitrotyrosine; ABTS®; 2,2′-azino-di-3-(ethylbenzthiazoline sulfonate); AChE:Fab′; acetylcholinesterase:Fab′; CAT; catalase; Cr; creatinine; di-Tyr; di-tyrosine; DNPH; 2,4-dinitrophenylhydrazine; DS; dermatan sulfate; DTNB; 5,5′-dithiobis-

دانلود رایگان متن کامل مقاله ISI 42 صفحه سال انتشار : 2016 سفارش ترجمه

The effects of chemically synthesized saposin C on glucosylceramide-β-glucosidase

Keywords: آنزیم جایگزین درمان; 4MU-Glc; 4-methyl-umbelliferyl-β-d-glucopyranoside; BMP; bis(monoacylglycero)phosphate; ERT; enzyme replacement therapy; GCase; glucosylceramide-β-glucosidase; GlcCer; glucosylceramide; NBD-GlcCer; 4-nitrobenzo-2-oxa-1,3-diazole labeled glucosylceramide

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2015 سفارش ترجمه

Residual glycosaminoglycan accumulation in mitral and aortic valves of a patient with attenuated MPS I (Scheie syndrome) after 6 years of enzyme replacement therapy: Implications for early diagnosis and therapy

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis; Cardiac valve disease; Coronary artery disease; Double valve replacement surgery; Coronary artery bypass graft; Enzyme replacement therapy

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2015 سفارش ترجمه

Bridging NCL research gaps

Keywords: آنزیم جایگزین درمان; NCL; neuronal ceroid lipofuscinosis; LSD; lysosomal storage disease; ERT; enzyme replacement therapy; ER; endoplasmic reticulum; PoC; proof-of-concept; iPS cell; induced pluripotent stem cell; PD; Parkinson's disease; NPC; Niemann-Pick type C; SLOS; Smi

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease

Keywords: آنزیم جایگزین درمان; Pompe disease; Late-onset type II glycogenosis; Respiratory muscles; Muscle training; Enzyme replacement therapy

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II

Keywords: آنزیم جایگزین درمان; MPS II; Immune modulation; Anti-idursulfase antibody titer; Enzyme replacement therapy; Treatment

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Ghrelin, leptin and adiponectin levels in Gaucher disease type I patients on enzyme replacement therapy

Keywords: آنزیم جایگزین درمان; Gaucher disease type I; Adiponectin; Ghrelin; Leptin; Insulin; BMI; body mass index; ERT; enzyme replacement therapy; GD; Gaucher disease; HOMA-IR; homeostatic model assessment of insulin resistance; SRT; substrate reduction therapy; T2DM; type 2 diabetes

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I

Keywords: آنزیم جایگزین درمان; Hurler; Scheie; Lysosomal storage disease; Enzyme replacement therapy; Alpha-l-iduronidase; Intrathecal;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Keywords: آنزیم جایگزین درمان; Myopathy; Creatine kinase; Dried blood spots; Enzyme replacement therapy; Glycogen storage disease; GAA deficiency;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type I

Keywords: آنزیم جایگزین درمان; OSAS; obstructive sleep apnea syndrome; MPS I; mucopolysaccharidosis I; HSCT; hematopoietic stem cell transplantation; PSG; polysomnography; AHI; apnea-hypopnea index; GAG; glycosaminoglycan; IDUA; a-L-iduronidase; MPS I-H; Hurler syndrome; MPS I-S; Sch

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

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: آنزیم جایگزین درمان; 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

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2015 سفارش ترجمه

BAFF blockade prevents anti-drug antibody formation in a mouse model of Pompe disease

Keywords: آنزیم جایگزین درمان; ADA; Anti-drug antibody; BAFF; B-cell activating factor; ERT; Enzyme replacement therapy; FO; Follicular B-cell; GAA; Acid α-glucosidase; MZ; Marginal zone B-cell; rhGAA; Recombinant human GAA; TR; Transitional B-cell; Acid alpha-glucosidase; BAFF; BLyS;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study

Keywords: آنزیم جایگزین درمان; enzyme replacement therapy; health technology assessment; mucopolysaccharidosis type I; mucopolysaccharidosis type II; mucopolysaccharidosis type VI; rare disorders;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy

Keywords: آنزیم جایگزین درمان; 8-OHdG; 8-hydroxy-2′-deoxyguanosine; CAT; catalase; Cr; creatinine; DI; damage index; Di-Tyr; di-tyrosine; DMB; 1,9-dimethylmethylene blue; DTNB; 5,5′-dithiobis(2-nitrobenzoic acid); Endo III; endonuclease III; ELISA; enzyme-linked immunoassay; ERT; e

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice

Keywords: آنزیم جایگزین درمان; Lysosomal storage disorder; Sanfilippo syndrome; MPS IIIA; Mouse; Cerebrospinal fluid; Enzyme replacement therapy;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease

Keywords: آنزیم جایگزین درمان; Cardiopulmonary exercise test; 6MWT; Late onset Pompe disease; Enzyme replacement therapy; Exercise capacity;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

Increased mannosylphosphorylation of N-glycans by heterologous expression of YlMPO1 in glyco-engineered Saccharomyces cerevisiae for mannose-6-phosphate modification

Keywords: آنزیم جایگزین درمان; Mannosylphosphorylation; Mannose-6-phosphate modification; YlMPO1; ScMNN4; Lysosomal storage disease; Enzyme replacement therapy;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

The combination of plant translational enhancers and terminator increase the expression of human glucocerebrosidase in Nicotiana benthamiana plants

Keywords: آنزیم جایگزین درمان; GCase; glucocerebrosidase; ERT; enzyme replacement therapy; 5′-UTR; 5′ untranslated region; NtADH; tobacco alcohol dehydrogenase; AtADH; arabidopsis alcohol dehydrogenase; NOS; nopaline synthase; HSP; heat shock protein; GUS; β-glucuronidase; MS; Mur

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

Innovative approach in Pompe disease therapy: Induction of immune tolerance by antigen-encapsulated red blood cells

Keywords: آنزیم جایگزین درمان; 4MU; 4-methylumbelliferyl α-D-glucopyranoside; Ab; antibody; AGA; alglucosidase-α; Ad; administration; APC; antigen-presenting cells; BS3; [bis(sulphosuccinimidyl)]suberate; BS3RBC-AGA; BS3-treated RBC-AGA; CT; cholera toxin; DC; dendritic cell; ERT; en

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

Experimental therapies in the neuronal ceroid lipofuscinoses

Keywords: آنزیم جایگزین درمان; Neuronal ceroid lipofuscinosis; Batten disease; Small molecule therapy; Cell therapy; Enzyme replacement therapy; Gene therapy;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

Disease specific therapies in leukodystrophies and leukoencephalopathies

Keywords: آنزیم جایگزین درمان; X-ALD; X-linked Adrenoleukodystrophy; AGS; Aicardi-Goutières Syndrome; CSF; cerebrospinal fluid; IFNα; α-interferon; RNA; ribonucleic acid; DNA; deoxyribonucleic acid; SLE; systemic lupus erythematosus; AxD; Alexander disease; GFAP; growth factor ass

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2015 سفارش ترجمه

Regular ArticleEnzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy

Keywords: آنزیم جایگزین درمان; AAV; adeno-associated virus; CNS; central nervous system; ERT; enzyme replacement therapy; ES; embryonic stem (cell); GALC; galactosylceramidase; G-CSF; granulocyte colony-stimulating factor; GFAP; glial fibrillary acidic protein; GLD; globoid cell leukod

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2015 سفارش ترجمه

Types A and B Niemann-Pick disease

Keywords: آنزیم جایگزین درمان; Niemann-Pick; acid Sphingomyelinase; sphingomyelin; mouse model; enzyme replacement therapy;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2015 سفارش ترجمه

Immunogenicity of Elosulfase Alfa, an Enzyme Replacement Therapy in Patients With Morquio A Syndrome: Results From MOR-004, a Phase III Trial

Keywords: آنزیم جایگزین درمان; antibody; efficacy; enzyme replacement therapy; immunogenicity; Morquio A; mucopolysaccharidosis IVA;

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2015 سفارش ترجمه

Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease

Keywords: آنزیم جایگزین درمان; A; adult; AET; aerobic exercise training; AUC; area under the curve; CI-MPR; cation-independent mannose-6-phosphate receptor; CLEAR; coordinated lysosomal expression and regulation transcriptome; ERT; enzyme replacement therapy; FA; fatty acid; FG; fast-t

دانلود رایگان متن کامل مقاله ISI 46 صفحه سال انتشار : 2015 سفارش ترجمه

Complicaciones neurológicas en la mucopolisacaridosis vi. Descripción de un caso adulto y revisión del tratamiento

Keywords: آنزیم جایگزین درمان; Galsulfasa; Mucopolisacaridosis vi; Terapia de reemplazo enzimáticoGalsulfase; Mucopolysaccharidosis vi; Enzyme replacement therapy

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-α-glucosidase in Pompe's iPSCs

Keywords: آنزیم جایگزین درمان; PD; Pompe disease; GSDII; glycogen storage disease type II; GAA; acid-α-glycosidase; LSD; lysosomal storage disease; ERT; enzyme replacement therapy; iPSC; induced pluripotent stem cell; PAS; Periodic-acid-Schiff; ALP; alkaline phosphates; TEM; transmiss

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Deletion of sterol O-acyltransferase 2 (SOAT2) function in mice deficient in lysosomal acid lipase (LAL) dramatically reduces esterified cholesterol sequestration in the small intestine and liver

Keywords: آنزیم جایگزین درمان; ALT; alanine aminotransferase; AST; aspartate aminotransferase; EC; esterified cholesterol; ERT; enzyme replacement therapy; LAL; lysosomal acid lipase; LIPA; gene that encodes LAL; NPC1L1; Niemann-Pick C1-Like1; SI; small intestine; SOAT2; sterol O-acylt

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Outcome of early-treated type III Gaucher disease patients

Keywords: آنزیم جایگزین درمان; GD, Gaucher disease; GBA, acid β-glucosidase; ERT, enzyme replacement therapyType IIIB Gaucher disease; Neuropathic; p.L444P mutation; Enzyme replacement therapy; Lymphadenopathy; Mental retardation

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry

Keywords: آنزیم جایگزین درمان; ADA-SCID; severe combined immunodeficiency due to adenosine-deaminase defect; SCID; severe combined immunodeficiency; ADA; adenosine deaminase; dAdo; 2-deoxyadenosine; ERT; enzyme replacement therapy; Ado; adenosine; TRECs; T-cell receptor excision circle

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Gaucher disease in a family from Maranhão

Keywords: آنزیم جایگزین درمان; Gaucher disease; Enzyme replacement therapy; Family

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Immune deficiencies, infection, and systemic immune disordersEstablishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience

Keywords: آنزیم جایگزین درمان; Allogeneic hematopoietic cell transplantation; gene therapy; primary immunodeficiency; clinical trial; ADA; Adenosine deaminase; ERT; Enzyme replacement therapy; HCT; Hematopoietic stem cell transplantation; PID; Primary immunodeficiency disease; PIDTC; P

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry

Keywords: آنزیم جایگزین درمان; ACP; acid phosphatase; CRIM; cross-reactive immunologic material; DBS; dried blood spot; ECG; electrocardiogram; ERT; enzyme replacement therapy; GAA; acid alpha-glucosidase; IRB/EC; Institutional Review Board or Ethics Committee; MRI; magnetic resonance

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pahenu2 mice

Keywords: آنزیم جایگزین درمان; Carrier erythrocytes; Drug delivery; PKU mouse model; Enzyme replacement therapy;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

Development and application to clinical practice of a validated HPLC method for the analysis of β-glucocerebrosidase in Gaucher disease

Keywords: آنزیم جایگزین درمان; GD; Gaucher disease; GBA; β-glucocerebrosidase; GlcCer; glucocerebroside; FACS; fluorescence-activated cell sorter; PNP-Glc; 4-nitrophenyl-β-d-glucopyranoside; PNP; p-nitrophenol; ERT; enzyme replacement therapy; IMG; imiglucerase; EMA; European Medicin

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imigluc

Keywords: آنزیم جایگزین درمان; Gaucher disease; Enzyme replacement therapy; Taliglucerase alfa; Imiglucerase;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients

Keywords: آنزیم جایگزین درمان; GALC; β-galactocerebrosidase; GLD; globoid cell leukodistrophy; ERT; enzyme replacement therapy; CNS; central nervous system; PNS; peripheral nervous system; LSDs; lysosomal storage diseases; Krabbe disease; Pharmacological chaperones; Missense mutations

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease

Keywords: آنزیم جایگزین درمان; BBB; blood-brain barrier; CBE; conduritol β-epoxide; Cer; ceramide; D-MEM; Dulbeco Eagle's minimal essential medium; ERT; enzyme replacement therapy; GBA1; lysosomal glucocerebrosidase; GBA2; non-lysosomal glucocerebrosidase; GlcCer; glucosylceramide;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2014 سفارش ترجمه

Agile delivery of protein therapeutics to CNS

Keywords: آنزیم جایگزین درمان; Aβ; amyloid β; Ab-InsR; antibodies against insulin receptor; Ab-TfR; antibodies against transferrin receptor; AD; Alzheimer's disease; Aerosol OT; bis-(2-ethylhexyl) sulfosucciate; ALS; amyotrophic lateral sclerosis; ApoB; apolipoprotein B; ApoE; apolip

دانلود رایگان متن کامل مقاله ISI 27 صفحه سال انتشار : 2014 سفارش ترجمه

KIR genes and HLA class I ligands in Gaucher disease

Keywords: آنزیم جایگزین درمان; ERT; enzyme replacement therapy; GCs; Gaucher cells; GD; Gaucher disease; HLA; human leukocyte antigen; KIR; killer-cell immunoglobulin-like receptors; MGUS; monoclonal gammopathy of undetermined significance; MM; multiple myeloma; NK; natural killer; RED

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

HIV-1 TAT-mediated protein transduction of human HPRT into deficient cells

Keywords: آنزیم جایگزین درمان; Lesch-Nyhan disease; HPRT; Recombinant proteins; Protein purification; TAT transduction domain; Enzyme replacement therapy;

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

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4 + 919G>A)

Keywords: آنزیم جایگزین درمان; Gb3; globotriaosylceramide; LysoGb3; globotriaosylsphingosine; LVMI; left ventricular mass index; LC-MS/MS; high performance liquid chromatography mass spectrometry; ERT; enzyme replacement therapy; Fabry disease; IVS4 + 919G>A; LysoGb3; Newborn screeni

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Keywords: آنزیم جایگزین درمان; Enzyme replacement therapy; Growth; Lysosomal storage disease; Mucopolysaccharidosis type II; z-Score;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2013 سفارش ترجمه

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI

Keywords: آنزیم جایگزین درمان; Mucopolysaccharidosis VI; MPS VI; Lysosomal storage disorder; Galsulfase; Enzyme replacement therapy; Pediatric;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2013 سفارش ترجمه