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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Detalles Bibliográficos
Autores principales: Sharma, S., Sabharwal, J. R., Datta, P., Sood, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341767/
https://www.ncbi.nlm.nih.gov/pubmed/22557905
http://dx.doi.org/10.4103/0976-237X.94554

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341767/
https://www.ncbi.nlm.nih.gov/pubmed/22557905
http://dx.doi.org/10.4103/0976-237X.94554

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