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Sanfilippo syndrome type D in two adolescent sisters.

We report on two adolescent sisters with Sanfilippo syndrome type D with some clinical features different from other cases previously described. They are the oldest cases reported to date and provide new clues about the course of the disease. Enzymatic and immunological characterisation of the patie...

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Autors principals: Siciliano, L, Fiumara, A, Pavone, L, Freeman, C, Robertson, D, Morris, C P, Hopwood, J J, Di Natale, P, Musumeci, S, Horwitz, A L
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016906/
https://ncbi.nlm.nih.gov/pubmed/1908010
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