Durand P
Riv Patol Nerv Ment. 1976 Jun;97(3):127-32.
The clinical and biochemical data of the two original cases of fucosidosis type I and of three other type II are reported. Of less than forty patients affected with fucosidosis, described in the literature, seven belong to two pedigree originating from a small, isolated area of the Southern Italian region of Calabria. All the affected children were born from first cousin marriages. Clinical heterogeneity has been observed inside both pedigrees and some patients show angiokeratoma while others do not.
报道了两例原发性I型岩藻糖苷贮积症及另外三例II型岩藻糖苷贮积症的临床和生化数据。文献中描述的患岩藻糖苷贮积症的不到40名患者中，有7名来自意大利南部卡拉布里亚地区一个小的孤立区域的两个家系。所有患病儿童均为近亲结婚所生。在两个家系中均观察到临床异质性，一些患者有血管角质瘤，而另一些患者则没有。
