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Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia
Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities,...
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Huvudupphovsmän: | , |
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Materialtyp: | Artigo |
Språk: | Inglês |
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Universidad del Valle
2014
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Ämnen: | |
Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4123588/ https://ncbi.nlm.nih.gov/pubmed/25100895 |
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