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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: Amy Barrett, Sian Ellard, Syed Aman, Khadiga Y. Eltonbary, Hussein Alawneh, Irina Tiron, Kevin Colclough, Wojciech Młynarski, Sujatha M. Jagadeesh, Martijn van de Bunt, Kathryn Noyes, Andrew T. Hattersley, Neeta Deshpande, Sarah E. Flanagan, Teoman Akcay, Nancy Samir Elbarbary, Melanie Kershaw, Catherine J. Peters, Anne Raimondo, Mohammad A. Abduljabbar, Bilgin Yüksel, Waqas I. Khan, Alisson Chatelas, Huseyin Demirbilek, Nick Shaw, Parijat De, Soren K. Thomsen, Frank Eickmeier, Lesley Turner, Anna L. Gloyn, Mahmoud Al-Zyoud, Ali J. Chakera, Louise Bath, Doga Turkkahraman, Elisa De Franco, Erdem Durmaz, Marc Fillion
المساهمون: Çukurova Üniversitesi
المصدر: Human Molecular Genetics
مصطلحات موضوعية: Male, medicine.medical_specialty, Hot Temperature, Genotype, Mutation, Missense, Biology, medicine.disease_cause, Severity of Illness Index, Neonatal diabetes mellitus, Internal medicine, Diabetes mellitus, Enzyme Stability, Glucokinase, Diabetes Mellitus, Genetics, medicine, Birth Weight, Humans, Missense mutation, Age of Onset, Allele, Child, Molecular Biology, Genetics (clinical), Enzyme Assays, Mutation, Homozygote, Infant, Newborn, Infant, Articles, General Medicine, medicine.disease, Recombinant Proteins, 3. Good health, Kinetics, Phenotype, Endocrinology, Child, Preschool, Female, Age of onset
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::855640b90cb234214b4922385ed52f73
https://hdl.handle.net/20.500.12605/18560