Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classical form is known as Hurler syndrome, the intermediat...

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Detalles Bibliográficos
Autores principales: Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Matte, Ursula da Silveira, Horovitz, Dafne D., Barth, Anneliese Lopes, Baldo, Guilherme, Vairo, Filippo, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151028/
https://www.ncbi.nlm.nih.gov/pubmed/32188113
http://dx.doi.org/10.3390/diagnostics10030161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151028/
https://www.ncbi.nlm.nih.gov/pubmed/32188113
http://dx.doi.org/10.3390/diagnostics10030161

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