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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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Vydáno v:Mol Genet Metab Rep
Hlavní autor: Rush, Eric T.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4909711/
https://ncbi.nlm.nih.gov/pubmed/27331011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.05.006
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