Clin Genet. 1979 Jun;15(6):500-4.

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.

Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P.

Abstract

Clinical heterogeneity for Sanfilippo B syndrome (MPS III B) in the same family has never been reported previously. We describe two clinically severe cases and one clinically mild case of MPS III B in a Neapolitan sibship. We could not detect N-acetyl-alpha-D-glucosaminidase activity in the sera of either the severe or mild cases. Mucopolysacchariduria mainly due to heparan sulfate excretion was consistently high in the severely affected patients and extremely variable in the mildly affected one.

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Sanfilippo B syndrome (MPS III B): altered residual alpha-N-acetylglucosaminidase activity in an unusual sibship. [Clin Chim Acta. 1982]
Sanfilippo B syndrome (MPS III B): altered residual alpha-N-acetylglucosaminidase activity in an unusual sibship.
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Cited by 5 PubMed Central articles

Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. [PLoS One. 2007]
Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B.
Heldermon CD, Hennig AK, Ohlemiller KK, Ogilvie JM, Herzog ED, Breidenbach A, Vogler C, Wozniak DF, Sands MS. PLoS One. 2007 Aug 22; 2(8):e772. Epub 2007 Aug 22.
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. [Biochem J. 2005]
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector.
Di Natale P, Di Domenico C, Gargiulo N, Castaldo S, Gonzalez Y Reyero E, Mithbaokar P, De Felice M, Follenzi A, Naldini L, Villani GR. Biochem J. 2005 Jun 1; 388(Pt 2):639-46.
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. [J Med Genet. 1999]
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, Gal A. J Med Genet. 1999 Jan; 36(1):28-31.

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