Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mary Theroux"'
Autor:
Caitlin Doherty, Lauren W. Averill, Mary Theroux, William G. Mackenzie, Christian Pizarro, Robert W. Mason, Shunji Tomatsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 59-67 (2018)
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), kerata
Externí odkaz:
https://doaj.org/article/79024b2e80524cb7b27db90f2e45a93b
Publikováno v:
Diagnostics, Vol 11, Iss 5, p 880 (2021)
Morquio syndrome is a rare disease caused by a disorder in the storage of mucopolysaccharides that affects multiple organs, including musculoskeletal, respiratory, cardiovascular, and digestive systems. Respiratory failure is one of the leading cause
Externí odkaz:
https://doaj.org/article/c67d5e05107c4e4b86595c8031b34dcb
Autor:
Shunji, Tomatsu, Eriko, Yasuda, Pravin, Patel, Kristen, Ruhnke, Tsutomu, Shimada, William G, Mackenzie, Robert, Mason, Mihir M, Thacker, Mary, Theroux, Adriana M, Montaño, Carlos J, Alméciga-Díaz, Luis A, Barrera, Yasutsugu, Chinen, William S, Sly, Daniel, Rowan, Yasuyuki, Suzuki, Tado, Orii
Publikováno v:
Pediatric endocrinology reviews : PER. 12
Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme causes specific glycosaminoglycan (GAG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4b96afd6985d1d0b959e5f7e675b6d2e
https://pubmed.ncbi.nlm.nih.gov/25345096
https://pubmed.ncbi.nlm.nih.gov/25345096
Publikováno v:
Journal of Pediatric Oncology Nursing. 8:90-91
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22eaa54b0d437716313c99c4aa0bf73b
https://doi.org/10.1177/104345429100800240
https://doi.org/10.1177/104345429100800240
Publikováno v:
British Journal of Anaesthesia. 76:95
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c32918e253de2b9099acdc9acac4c0c3
https://doi.org/10.1016/s0007-0912(18)31159-0
https://doi.org/10.1016/s0007-0912(18)31159-0