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...

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Detalles Bibliográficos
Autores principales: Al Zaabi, Nuha Nasser, Sirajum, Muneera, Al‐Wawi, Mohd Zaki, Al Suwaiji, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
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

Internet

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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