Keywords: DBS; Dried blood spots collected on filter paper; MPS I; Mucopolysaccharidosis type I; MPS VI; Mucopolysaccharosis type VI; LSDs; Lysosomal storage disorders; LC/MS/MS; Liquid chromatography combined with tandem mass spectrometry; GAL; Alpha-galactosidase
مقالات ISI (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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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.
A novel compound heterozygote mutation in the ARSB gene in a patient with Maroteaux-Lamy syndrome and its Insilico evaluation
Keywords: Afghanistan; 3D structure; MPS VI; N-acetylgalactosamine 4-sulfatase; Polymorphism; Sanger sequencing;
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Keywords: 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
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI
Keywords: 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
Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP)
Keywords: Mucopolysaccharidosis VI; MPS VI; Maroteaux-Lamy syndrome; cervical cord compression; spinal cord compression; cervical decompression surgery;
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)
Keywords: Mucopolysaccharidosis; MPS VI; Diagnosis; Asia; Pacific; Symptoms
Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children
Keywords: Mucopolysaccharidosis; Maroteaux–Lamy syndrome; MPS VI; Glycosaminoglycan (GAG); Enzyme replacement therapy (ERT); N-acetylgalactosamine-4-sulfatase (ASB); Galsulfase; Early treatment
Improving arylsulfatase activity determination in dried blood spots: Screening and diagnostic approaches for Maroteaux-Lamy syndrome (MPS VI)
Keywords: ARSB; arylsulfatase B isoform; AU; arbitrary units; DBS; dried blood spot; EA; enzyme activity; LSD; lysosomal storage disorder; MPS VI; mucopolysaccharidosis type VI; NBS; newborn screening; β-MU; 4-methylumbelliferone; β-MUS; 4-methylumbelliferone sul
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
Keywords: Mucopolysaccharidosis VI; MPS VI; Lysosomal storage disorder; Galsulfase; Enzyme replacement therapy; Pediatric;
Expert recommendations for the laboratory diagnosis of MPS VI
Keywords: MPS VI; Maroteaux–Lamy syndrome; Diagnosis; Arylsulfatase B; Glycosaminoglycan; Algorithm
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI
Keywords: ARSB; Arylsulfatase B gene; ARSB; Arylsulfatase B protein (also known as N-acetylgalactosamine 4-sulfatase); CCC; Cervical cord compression; CPAP; Continuous positive airway pressure; C1 or C2; Cervical vertebra 1 or cervical vertebra 2, atlantoaxial join
Lentiviral-mediated correction of MPS VI cells and gene transfer to joint tissues
Keywords: MPS VI; Joint disease; Lentiviral vector; Mucopolysaccharidosis type VI; Gene therapy; N-acetylgalactosamine-4-sulphatase
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy
Keywords: Mucopolysaccharidosis type VI; MPS VI; Maroteaux–Lamy syndrome; Arylsulfatase B; ARSB; Mutational analysis
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux–Lamy syndrome) patients, including 9 novel mutations
Keywords: Maroteaux–Lamy syndrome; Mucopolysaccharidosis VI; MPS VI; N-Acetylgalactosamine-4-sulfatase; Arylsulfatase B; ARSB gene; Mutational analysis; Haplotype analysis