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 Reports

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7118e015b695c28fc964a97d7300e6
https://doi.org/10.1016/j.ymgmr.2015.06.002

المؤلفون: Taguchi A; Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Ishii S; Department of Matrix Medicine, Faculty of Medicine, Oita University, Oita, Japan.; Biochemical Laboratory, GlycoPharma Corporation, Oita, Japan., Mikame M; Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Maruyama H; Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Jan 02; Vol. 34, pp. 100952. Date of Electronic Publication: 2023 Jan 02 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

المؤلفون: Mathew J; Centre for Human Genetics (CHG), Bangalore, India., Jagadeesh SM; Department of Clinical Genetics, Fetal Care Research Foundation (FCRF), Chennai, India., Bhat M; Centre for Human Genetics (CHG), Bangalore, India., Udhaya Kumar S; Centre for Human Genetics (CHG), Bangalore, India., Thiyagarajan S; Institute of Bioinformatics and Applied Biotechnology (IBAB), Bangalore, India., Srinivasan S; Centre for Human Genetics (CHG), Bangalore, India.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2015 Jul 17; Vol. 4, pp. 53-61. Date of Electronic Publication: 2015 Jul 17 (Print Publication: 2015).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE