MPSI Manifestations and Treatment Outcome: Skeletal Focus

Mucopolysaccharidosis type I (MPSI) (OMIM #252800) is an autosomal recessive disorder caused by pathogenic variants in the IDUA gene encoding for the lysosomal alpha-L-iduronidase enzyme. The deficiency of this enzyme causes systemic accumulation of glycosaminoglycans (GAGs). Although disease manife...

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Detalles Bibliográficos
Autores principales: De Ponti, Giada, Donsante, Samantha, Frigeni, Marta, Pievani, Alice, Corsi, Alessandro, Bernardo, Maria Ester, Riminucci, Mara, Serafini, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569890/
https://www.ncbi.nlm.nih.gov/pubmed/36232472
http://dx.doi.org/10.3390/ijms231911168

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569890/
https://www.ncbi.nlm.nih.gov/pubmed/36232472
http://dx.doi.org/10.3390/ijms231911168

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