Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis

Mucopolysaccharidoses (MPSs) are a group of genetic alterations whose effect is the progressive intralysosomal accumulation of glycosaminoglycans. Affected individuals are deficient in one or more lysosomal enzymes which, depending on the MPS, may cause coarse facial features, short stature, multipl...

Descripción completa

Detalles Bibliográficos
Autores principales: Uribe‐Ardila, Alfredo, Ramirez‐Borda, Johana, Ayala, Adis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458599/
https://www.ncbi.nlm.nih.gov/pubmed/36101826
http://dx.doi.org/10.1002/jmd2.12313

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458599/
https://www.ncbi.nlm.nih.gov/pubmed/36101826
http://dx.doi.org/10.1002/jmd2.12313

Ejemplares similares