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Atypical presentation of mucopolysaccharidosis type IVA

A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular necrosis of the femoral head. Radiography was suggestive of spondyloepiphyseal dysplasia with decreased bone mineral density for age. Targeted molecular and biochemical testing were norm...

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Detalles Bibliográficos
Autor principal:	Rush, Eric T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909711/ https://www.ncbi.nlm.nih.gov/pubmed/27331011 http://dx.doi.org/10.1016/j.ymgmr.2016.05.006

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