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Diagnosis of Sanfilippo Disease Correlating Clinical, Radiological and Biochemical Findings–A Case Report

Mucopolysaccharidoses (MPS) are a group of genetic diseases and its diagnosis is a challenging task due to multiple differential diagnosis. We had combined clinical findings, radiological and ophthalmological features. Biochemical test for urine glycosaminoglycans (GAG) was done for confirmation of...

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Detalhes bibliográficos
Main Authors: Agrawal, Udit, Meshram, Ajay, Vagha, Jayant, Swarnkar, Kirti, Palandurkar, Kamlesh
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3477452/
https://ncbi.nlm.nih.gov/pubmed/24082472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12291-012-0211-1
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