Clinical manifestation of Hurler syndrome in a 7 year old child
Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. This condition is characterized by accumulation of inc...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Medknow Publications
2012-01-01
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| coleção: | Contemporary Clinical Dentistry |
| Assuntos: | |
| Acesso em linha: | http://www.contempclindent.org/article.asp?issn=0976-237X;year=2012;volume=3;issue=1;spage=86;epage=89;aulast=Sharma |
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