[墨西哥的遗传性溶酶体疾病。II. 黏多糖贮积症和黏脂贮积症的实验室诊断]
[Hereditary lysosomal diseases in Mexico. II. Laboratory diagnosis of mucopolysaccharidosis and mucolipidosis].
作者信息
Zetina M E, Gonzalez-Noriega A
机构信息
Unidad de Genética de la Nutrición, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, D.F.
出版信息
Rev Invest Clin. 1990 Jul-Sep;42(3):165-73.
Methods suitable for the diagnosis of the mucopolysaccharidoses and mucolipidosis using urine, serum and leucocytes are presented. The methodology includes a screening technique for the mucopolysaccharidoses, a determination of glycosaminoglycans excreted in urine, serum and leucocyte enzymatic determinations for deficient lysosomal enzymes in lysosomal storage diseases. Their use is validated in the diagnosis of 19 patient with mucopolysaccharidoses and 5 with mucolipidoses, and to establish a carrier state in 10 close relatives.
本文介绍了适用于利用尿液、血清和白细胞诊断黏多糖贮积症和黏脂贮积症的方法。该方法包括黏多糖贮积症的筛查技术、尿液中排泄的糖胺聚糖的测定、血清和白细胞中溶酶体贮积病中缺乏的溶酶体酶的酶学测定。这些方法在19例黏多糖贮积症患者和5例黏脂贮积症患者的诊断中得到验证，并用于确定10名近亲的携带者状态。
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