Also known as mucopolysaccharidosis III, HEPARAN SULFATE SULFATASE DEFICIENCY, MPS IIIA - Sanfilippo syndrome A, MPS IIIB - Sanfilippo syndrome B, MPS IIIC - Sanfilippo syndrome C, MPS IIID - Sanfilippo syndrome D
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Síndrome de Sanfilippo, assim batizada em homenagem ao doutor que relatou os primeiros casos da doença em 1963, corresponde às mucopolissacaridoses (MPS) III-A, III-B, III-C e III-D. Se caracteriza pela presença de atraso de desenvolvimento, envolvimento do sistema nervoso central (cérebro) e problemas físicos leves.
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mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).