Martin J J, Ceuterick C, Leroy J G
Rev Neurol (Paris). 1976 Sep;132(9):639-51.
Ultrastructural study of the skin biopsies of 23 patients with either ceroid-lipofuscinoses, mucopolysaccharidoses, mucolipidoses, acid maltase deficiency or sphingolipidoses, demonstrates the presence of relatively typical cytosomes allowing a precise diagnosis at least as early as the time of the first clinical evaluation.
对23例患有蜡样脂褐质沉积症、黏多糖贮积症、黏脂贮积症、酸性麦芽糖酶缺乏症或鞘脂贮积症的患者进行皮肤活检的超微结构研究表明,存在相对典型的胞质小体,这至少在首次临床评估时就能够进行精确诊断。