Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P
Clin Genet. 1979 Jun;15(6):500-4. doi: 10.1111/j.1399-0004.1979.tb00832.x.
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.
此前从未有过关于同一家族中桑菲利波B综合征（MPS III B）临床异质性的报道。我们描述了那不勒斯一个同胞家族中的两例临床严重型和一例临床轻型MPS III B病例。在严重型和轻型病例的血清中，我们均未检测到N - 乙酰 - α - D - 氨基葡萄糖苷酶活性。主要由硫酸乙酰肝素排泄导致的黏多糖尿症在严重受影响的患者中一直很高，而在轻度受影响的患者中变化极大。
