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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Materias: | |
| 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 |