O'Brien J S, Bernett J, Veath M L, Paa D
Arch Neurol. 1975 Sep;32(9):592-9. doi: 10.1001/archneur.1975.00490510048002.
Fifteen patients with lysosomal storage diseases were studied. Diagnoses of their illnesses included infantile Gaucher disease; Krabbe disease; Niemann-Pick disease, type A; glycogen storage disease, type 3; Fabry disease, Jansky-Bielschowsky and Spielmeyer-Vogt types of amaurotic idiocy, GM1 gangliosidosis, type 1; Hurler disease; and Sanfilippo disease, types A and B. We carried out ultrastructural examinations of skin biopsy specimens that were taken to establish a cultured fibroblast line on each patient. We found diagnostic storage inclusions in all patients except those with infantile Gaucher disease, Krabbe disease, and Spielmeyer-Vogt disease, This technique can be carried out on a specimen obtained by a primary physician on an out-patient basis, thus avoiding major surgery.
对15例溶酶体贮积病患者进行了研究。他们的疾病诊断包括婴儿型戈谢病、克拉伯病、A型尼曼-匹克病、3型糖原贮积病、法布里病、詹斯基-比尔斯科夫斯基型和施皮勒梅耶-福格特型黑蒙性白痴、1型GM1神经节苷脂贮积病、胡尔勒病以及A型和B型桑菲利普病。我们对取自每位患者以建立成纤维细胞系的皮肤活检标本进行了超微结构检查。我们在除婴儿型戈谢病、克拉伯病和施皮勒梅耶-福格特病患者之外的所有患者中发现了诊断性贮积内含物。该技术可以在门诊由主治医生获取的标本上进行，从而避免了大手术。
