المؤلفون: Nasrin Malekpour, Rahim Vakili, Tayebeh Hamzehloie

المصدر: Iranian Journal of Basic Medical Sciences, Vol 21, Iss 9, Pp 950-956 (2018)

مصطلحات موضوعية: ARSB gene, Arylsulfatase B, Consanguineous marriage, DNA sequencing, Maroteaux-Lamy syndrome, Mucopolysaccharidosis VI (MPS VI), Medicine

وصف الملف: electronic resource

Relation: http://ijbms.mums.ac.ir/article_11251_92da38c0dc480568787e925f69546db3.pdf; https://doaj.org/toc/2008-3866; https://doaj.org/toc/2008-3874

URL الوصول: https://doaj.org/article/ae8d97442aff4d08a29c2f63ad7b941b

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

Relation: http://www.sciencedirect.com/science/article/pii/S221442691530015X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/608ba39bbeb644a3921624d1b9905038

المؤلفون: Malekpour, Nasrin, Vakili, Rahim, Hamzehloie, Tayebeh

المصدر: Iranian Journal of Basic Medical Sciences, Vol 21, Iss 9, Pp 950-956 (2018)
Iranian Journal of Basic Medical Sciences

مصطلحات موضوعية: ARSB gene, Mucopolysaccharidosis VI (MPS VI), Arylsulfatase B, Consanguineous marriage, lcsh:R, Maroteaux-Lamy syndrome, lcsh:Medicine, Original Article, Consanguineous marriage DNA sequencing, DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::28df11d6873c963090ae19b603040c6d
http://ijbms.mums.ac.ir/article_11251_92da38c0dc480568787e925f69546db3.pdf

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

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