Mucopolysaccharidoses: early diagnostic signs in infants and children
Abstract 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 combinatio...
Asıl Yazarlar: | , , , |
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Materyal Türü: | Makale |
Dil: | English |
Baskı/Yayın Bilgisi: |
BMC
2018-11-01
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Seri Bilgileri: | Italian Journal of Pediatrics |
Konular: | |
Online Erişim: | http://link.springer.com/article/10.1186/s13052-018-0550-5 |