دانلود مقالات ISI درباره Mucopolysaccharidosis نوع II + ترجمه فارسی

Evaluation of cerebrospinal fluid heparan sulfate as a biomarker of neuropathology in a murine model of mucopolysaccharidosis type II using high-sensitivity LC/MS/MS

Keywords: Mucopolysaccharidosis نوع II; Cerebrospinal fluid; LC/MS/MS; Enzyme replacement therapy; Glycosaminoglycan; Iduronate-2-sulfatase; Mucopolysaccharidosis type II;

دانلود رایگان متن کامل مقاله ISI 6 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: Mucopolysaccharidosis نوع II; 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

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: Mucopolysaccharidosis نوع II; 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

Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II

Keywords: Mucopolysaccharidosis نوع II; Mucopolysaccharidosis type II; Hematopoietic cell transplantation; Non-myeloablative preconditioning; ACK2;

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

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Keywords: Mucopolysaccharidosis نوع II; Head circumference; Lysosomal storage disease; Mucopolysaccharidosis type II; Weight; Height; Puberty;

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: Mucopolysaccharidosis نوع II; 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

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

Keywords: Mucopolysaccharidosis نوع II; 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

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Keywords: Mucopolysaccharidosis نوع II; Genetic testing; Genotype–phenotype correlation; Hunter syndrome; Lysosomal storage disorder; Mucopolysaccharidosis type II

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

Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene

Keywords: Mucopolysaccharidosis نوع II; Hunter syndrome; Mucopolysaccharidosis type II; Iduronate-2-sulfatase; Mutations; Glycosaminoglycans

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

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

Keywords: Mucopolysaccharidosis نوع II; μg/ml; micrograms per milliliters; μl; microliters; bp; base pairs; cDNA; DNA complementary to RNA; cm; centimeters; dbSNPs; Single Nucleotide Polymorphism Database; del; deletion; DMEM; Dulbecco's modified Eagle medium; GAGs; glycosaminoglycans; h; hou

دانلود رایگان متن کامل مقاله ISI 5 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: Mucopolysaccharidosis نوع II; 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

Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings

Keywords: Mucopolysaccharidosis نوع II; Mucopolysaccharidosis type II; Enzyme replacement therapy

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

Effect of rapid cessation of enzyme replacement therapy: A report of 5 cases and a review of the literature

Keywords: Mucopolysaccharidosis نوع II; Mucopolysaccharidosis type II; Hunter syndrome; Enzyme replacement therapy;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

Keywords: Mucopolysaccharidosis نوع II; ADL; activities of daily living; DQ; development quotient; ERT; enzyme replacement therapy; FIM; functional independence measure; GAG; glycosaminoglycan; HSCT; hematopoietic stem cell transplantation; IQ; intelligence quotient; JSPH; Japanese Society for

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Early Clinical Markers of Central Nervous System Involvement in Mucopolysaccharidosis Type II

Keywords: Mucopolysaccharidosis نوع II; CNS; Central nervous system; ERT; Enzyme replacement therapy; GAG; Glycosaminoglycan; IT; Intrathecal; MPS II; Mucopolysaccharidosis type II; NP; Neural parenchyma;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2011 سفارش ترجمه

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

Keywords: Mucopolysaccharidosis نوع II; Case series; Children; Hunter Outcome Survey; Hunter syndrome; Idursulfase; Mucopolysaccharidosis type II

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2010 سفارش ترجمه

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey

Keywords: Mucopolysaccharidosis نوع II; BiPAP; bi-level positive airway pressure; CPAP; continuous positive airway pressure; ERT; enzyme replacement therapy; GAG; glycosaminoglycan; HOS; Hunter Outcome Survey; I2S; iduronate-2-sulfatase; IRR; infusion-related reaction; MPS II; mucopolysaccharid

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2010 سفارش ترجمه

Characterization of a novel p.S305P and a known c.1006 +5G > C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II

Keywords: Mucopolysaccharidosis نوع II; Mucopolysaccharidosis type II; Iduronate-2-sulfatase; Novel mutation; Donor splice site; Genotype-molecular phenotype correlation;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2007 سفارش ترجمه

Evaluation of ADL in patients with Hunter disease using FIM score

Keywords: Mucopolysaccharidosis نوع II; Mucopolysaccharidosis type II; Hunter disease; Activities of daily life; ADL; Functional independent measure; FIM

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2007 سفارش ترجمه

Detection of hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: Biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers

Keywords: Mucopolysaccharidosis نوع II; MPS, Mucopolysaccharidosis; IDS, Iduronate-2-Sulfatase; PCR, Polymerase Chain ReactionHunter syndrome; Mucopolysaccharidosis type II; Iduronate-2-sulfatase; IDS gene

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2006 سفارش ترجمه