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Alpha‐L‐iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis
The IDUA gene (MIM 252800) provides instructions for producing alpha‐L‐iduronidase, which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene have been found to cause Mucopolysaccharidosis type I (MPS I) (MIM 607014). This leads to the...
Autores principales: | Al Zaabi, Nuha Nasser, Sirajum, Muneera, Al‐Wawi, Mohd Zaki, Al Suwaiji, Mohammed |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9137109/ https://www.ncbi.nlm.nih.gov/pubmed/35664514 http://dx.doi.org/10.1002/ccr3.5904 |
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