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Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report

INTRODUCTION: We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter synd...

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Hlavní autoři: Shah, Gauri Shankar, Mahal, Tania, Sharma, Subodh
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2010
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2890619/
https://ncbi.nlm.nih.gov/pubmed/20504305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-4-154
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