دانلود مقالات ISI درباره Mucopolysaccharidosis Iva + ترجمه فارسی

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

Keywords: Mucopolysaccharidosis IVA; Morquio syndrome; GALNS; Lysosomal storage disorder; Mutation;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2018 سفارش ترجمه

Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA

Keywords: C6S; chondroitin-6-sulfate; cDNA; complementary deoxyribonucleic acid; GAGs; glycosaminoglycans; GALNS; N-acetylgalactosamine-6-sulfatase; gDNA; genomic DNA; HCPA; Hospital de Clínicas de Porto Alegre; HGMD; The Human Gene Mutation Database; KS; keratan

دانلود رایگان متن کامل مقاله ISI 8 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: 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

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

Keywords: 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

Long-term Immunogenicity of Elosulfase Alfa in the Treatment of Morquio A Syndrome: Results From MOR-005, a Phase III Extension Study

Keywords: elosulfase alfa; immunogenicity; Morquio A; mucopolysaccharidosis IVA; Vimizim;

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2017 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: antibody; efficacy; enzyme replacement therapy; immunogenicity; Morquio A; mucopolysaccharidosis IVA;

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

Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA

Keywords: Mucopolysaccharidosis IVA; Bone marrow transplantation; GALNS; Respiratory function; Bone mineral density

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2014 سفارش ترجمه

Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

Keywords: C6S; Chondroitin-6-sulfate; CDC; Centers for Disease Control and Prevention; Cr; Creatinine; DMB; dimethylmethylene blue; DMSO; dimethylsulfoxide; GAGs; Glycosaminoglycans; GALNS; N-acetylgalactosamine-6-sulfate sufatase; IMO; International Morquio Organi

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2013 سفارش ترجمه

Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

Keywords: Spanish population; Mucopolysaccharidosis IVA; GALNS; Mutation analysis; Morquio A

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

Keywords: Mucopolysaccharidosis IVA; Morquio syndrome; Lysosomal storage diseases; Glycosaminoglycans; Dried blood spots; Screening;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

Maladie de Morquio : diagnostic à l’âge adulte

Keywords: Morquio; Mucopolysaccharidose type IV; Dysplasie spondylo-épiphysométaphysaire; Kératane sulfate; GALNSMorquio; Mucopolysaccharidosis IVA; Spondylo-epiphysometaphyseal dysplasia; Keratan sulfate; GALNS

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

Murine model (Galnstm(C76S)slu) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins

Keywords: GALNS; Mucopolysaccharidosis IVA; Active site; Targeted mutagenesis; Sulfatase

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

Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase

Keywords: GALNS; Mucopolysaccharidosis IVA; Lysosomal storage disease; Enzyme replacement therapy; Chinese hamster ovary cell

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2007 سفارش ترجمه

Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene

Keywords: Missense variant; Mucopolysaccharidosis IVA; Sulfatase gene family; Conserved amino acid residue; Conservative amino acid change

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2006 سفارش ترجمه