Keywords: MPS; mucopolysaccharidosis; GAG; glycosaminoglycang; CS; chondroitin sulfate; DS; dermatan sulfate; HS; heparan sulfate; KS; keratan sulfate; ECM; extracellular matrix; IDUA; α-l-iduronidase; I2S; iduronate-2-sulfatse; SGHS; heparan-N-sulfatase; NAGLU; Î
مقالات ISI (ترجمه نشده)
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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: LSD; lysosomal storage disease; CNS; central nervous system; BBB; blood-brain barrier; ERT; enzyme replacement therapy; GAG; glycosaminoglycans; CSF; cerebrospinal fluid; FDA; food and drug administration; ICV; intracerebroventricular; HLA; human leukocyt
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
Keywords: 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
Agile delivery of protein therapeutics to CNS
Keywords: 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
Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
Keywords: 4MU; 4-methylumbelliferone; ERT; enzyme-replacement therapy; HSCT; hematopoietic stem cell transplantation; IDUA; α-l-iduronidase; MPS; mucopolysaccharidosis; MPS IH; Hurler syndrome; MPS IH/S; Hurler-Scheie syndrome; MPS IS; Scheie syndrome; Mucopolys
Original ArticleIdentification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry
Keywords: CDC; Centers for Disease Control and Prevention; GAA; α-glucosidase; GLA; α-galactosidase; IDUA; α-L-iduronidase; LSD; Lysosomal storage disease; MPS; Mucopolysaccharidosis; MS/MS; Tandem mass spectrometry; PCR; Polymerase chain reaction; QC; Quality c
Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs
Keywords: MPS; Mucopolysaccharidosis; GAG; Glycosaminoglycan; MV; mitral valve; MR; mitral regurgitation; GUSB; β-glucuronidase; OMIM; Online Mendelian Inheritance in Man; HSCT; hematopoietic stem cell transplantation; ERT; enzyme replacement therapy; IV; Intraven
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants
Keywords: Cq; quantification cycles; DS; dermatan sulfate; ERT; enzyme replacement therapy; GAGs; glycosaminoglycans; HSCT; hematopoietic stem cell transplantation; HS; heparan sulfate; IDUA; α-l-iduronidase; MPS I; mucopolysaccharidosis type I; PTC; premature ter
Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation
Keywords: MPS; mucopolysaccharidosis; Cts; cathepsin; MMP; matrix metalloproteinase; GUSB; β-glucuronidase; GAGs; glycosaminoglycans; TLR4; toll-like receptor 4; TNFα; tumor necrosis factor alpha; IL-6; interleukin 6; M6P; mannose 6-phosphate; ERT; enzyme replace
Prediction of neuropathology in mucopolysaccharidosis I patients
Keywords: Mucopolysaccharidosis I; α-l-Iduronidase; Heparan sulphate; Dermatan sulphate; Oligosaccharides; Central nervous system pathology; Electrospray-ionisation tandem mass spectrometry;
Penetration, diffusion, and uptake of recombinant human α-l-iduronidase after intraventricular injection into the rat brain
Keywords: Lysosomal storage disease; Hurler; Scheie; α-l-Iduronidase; Mucopolysaccharidosis; Brain; Rat;
Cardiac manifestations in the mouse model of mucopolysaccharidosis I
Keywords: Mucopolysaccharidosis; Hurler; α-l-Iduronidase; Lysosomal storage; Heart; Echocardiography; Electrocardiography; Ventricular function; Circadian rhythm;