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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...
Kaydedildi:
| Yayımlandı: | Mol Genet Metab Rep |
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| Yazar: | |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Elsevier
2016
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| Konular: | |
| Online Erişim: | 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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