Cargando…
Mucopolysaccharidoses: early diagnostic signs in infants and children
Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochemical, and genetic heterogeneity, share key clinical features in varying combinations, inclu...
Autores principales: | Galimberti, Cinzia, Madeo, Annalisa, Di Rocco, Maja, Fiumara, Agata |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238260/ https://www.ncbi.nlm.nih.gov/pubmed/30442162 http://dx.doi.org/10.1186/s13052-018-0550-5 |
Ejemplares similares
-
Imaging findings of mucopolysaccharidoses: a pictorial review
por: Palmucci, Stefano, et al.
Publicado: (2013) -
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic
por: Fiumara, Agata, et al.
Publicado: (2023) -
ENT and mucopolysaccharidoses
por: Bianchi, Pier Marco, et al.
Publicado: (2018) -
Diagnosis of Mucopolysaccharidoses
por: Kubaski, Francyne, et al.
Publicado: (2020) -
Glaucoma in mucopolysaccharidoses
por: Kong, Weijing, et al.
Publicado: (2021)