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pro vyhledávání: '"Johana Ramírez Borda"'
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Sanfilippo B is a lysosomal disorder characterized by the pathological accumulation of heparan sulfate. It is caused by mutations in the NAGLU gene that codes for the alpha-N-acetylglucosaminidase enzyme. The objective of this study was to d
Externí odkaz:
https://doaj.org/article/c55dc8ff4419419ebb8ce2f21a1ad3dd
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200023, Published: 12 APR 2021
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200023, Published: 12 APR 2021
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Sanfilippo B is a lysosomal disorder characterized by the pathological accumulation of heparan sulfate. It is caused by mutations in the NAGLU gene that codes for the alpha-N-acetylglucosaminidase enzyme. The objective of this study was to determine