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...
| Published in: | Molecular Genetics and Metabolism Reports |
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| Main Author: | |
| Format: | Article |
| Language: | English |
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Elsevier
2016-09-01
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426916300398 |