Torreblanca J, Antelo M C, García García S, García Consuegra J, Collado F
An Esp Pediatr. 1979 Feb;12(2):113-22.
Three cases of mucolipidosis type III in three siblins ranging in age from 4 to 10 years are reported. One of them was severely involved; the other two in a lesser degree. The enzymatic studies performed are exposed, together with a discussion and interpretation of the findings. The concepts regarding the group of metabolic diseases among which mucolipidosis is nowadays included are reviewed. Some characteristics of the enzymatic disorder, origin of the disease, are finally commented.
报告了3例年龄在4至10岁之间的三兄弟姐妹患III型黏脂贮积症的病例。其中1例病情严重；另外2例病情较轻。文中展示了所进行的酶学研究，并对研究结果进行了讨论和解读。回顾了如今包含黏脂贮积症在内的代谢性疾病组的相关概念。最后对该酶紊乱疾病的起源的一些特征进行了评论。
