Mourão P A, Toledo S P, Dietrich C P
Acta Genet Med Gemellol (Roma). 1977;26(1):92-4. doi: 10.1017/s0001566000010266.
Urinary mucopolysaccharides from three patients with acheiropodia were qualitatively and quantitatively analysed by agar gel electrophoresis coupled with enzymatic degradation. Although no abnormal pattern was characterized, eventual metabolic dysfunction detected only in bone/cartilage tissues could not be ruled out.
采用琼脂凝胶电泳结合酶降解法,对3例无手无足患者的尿黏多糖进行了定性和定量分析。虽然未发现异常模式,但不能排除仅在骨/软骨组织中检测到的最终代谢功能障碍。