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1دورية أكاديمية
المؤلفون: Juby Mathew, Sujatha M. Jagadeesh, Meenakshi Bhat, S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Sudha Srinivasan
المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
مصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Maroteaux–Lamy syndrome, Arylsulfatase B (ARSB), Inborn error of metabolism (IEM), Lysosomal storage disorder (LSD), Lysosomal enzyme, Mutations, India, Active site, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2
المؤلفون: S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Meenakshi Bhat, Juby Mathew, Sudha Srinivasan, Sujatha Jagadeesh
المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Arylsulfatase B, ARSB, arylsulfatase B, Population, India, LSD, lysosomal storage disorder, GAG, glycosaminoglycan, Lysosomal storage disorder (LSD), Biology, MPS, mucopolysaccharidosis, medicine.disease_cause, HSCT, hematopoietic stem cell transplantation, Endocrinology, VUS, variants of unknown significance, Genetics, medicine, MPS - Mucopolysaccharidosis, education, Arylsulfatase B (ARSB), lcsh:QH301-705.5, Molecular Biology, Gene, GALNS, N-acetyl galactosamine 6-sulfatase, lcsh:R5-920, education.field_of_study, Mutation, Maroteaux–Lamy syndrome, Active site, Mucopolysaccharidosis VI, medicine.disease, Lysosomal enzyme, ERT, enzyme replacement therapy, lcsh:Biology (General), Inborn error of metabolism (IEM), Inborn error of metabolism, PCT, pharmacological chaperone therapy, HGMD, Human Gene Mutation Database, lcsh:Medicine (General), Mutations, Research Paper