Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the α-N-acetylglucosaminidase gene from the Okinawa islands in Japan

Author:

Chinen Yasutsugu,Tohma Takaya,Izumikawa Yoshinori,Uehara Hiroyuki,Ohta Takao

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. Beesley CE, Young EP, Vellodi A, Winchester BG (1998) Identification of 12 novel mutations in the alpha- N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet 35:910–914

2. Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, Gal A (1999) Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha- N-acetylglucosaminidase gene mutations. J Med Genet 36:28–31

3. Hall CW, Liebaers I, Di Natale P, Neufeld EF (1978) Enzymic diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol 50:439–56

4. van de Kamp JJP, Niermeijer MF, von Figura K, Giesberts MAH (1981) Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet 20:152–160

5. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249–254

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