Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease caused by biallelic mutations in IDUA, the gene coding for the lysosomal enzyme alpha L-iduronidase. Clinically MPS I is a chronic progressive multisystem disease typically presenting with coarse facial features, skeletal defor...

Descripción completa

Detalles Bibliográficos
Autores principales: Katja, Kloth, Inga, Vater, Ramona, Lindschau, Almuth, Caliebe, Maria, Muschol Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7582098/
https://www.ncbi.nlm.nih.gov/pubmed/33117653
http://dx.doi.org/10.1016/j.ymgmr.2020.100660

Ejemplares similares

Ejemplares similares