Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit of the lysosomal hydrolases involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). They are all monogenic defects, transmitted in an autosomal recessive way, except for MPS type II whic...

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Detalles Bibliográficos
Autores principales: Filocamo, Mirella, Tomanin, Rosella, Bertola, Francesca, Morrone, Amelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238298/
https://www.ncbi.nlm.nih.gov/pubmed/30442161
http://dx.doi.org/10.1186/s13052-018-0553-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238298/
https://www.ncbi.nlm.nih.gov/pubmed/30442161
http://dx.doi.org/10.1186/s13052-018-0553-2

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