β-半乳糖苷酶缺乏症患者的尿寡糖筛查
Urinary oligosaccharide screening in patients with beta-galactosidase deficiency.
作者信息
Sewell A C, Gehler J, Spranger J
出版信息
Eur J Pediatr. 1980 May;133(3):269-71. doi: 10.1007/BF00496087.
PMID:7389740
Abstract
Following ion-exchange chromatography and subsequent thin-layer chromatography, 3 peculiar oligosaccharide excretion patterns were distinguished in 3 patients with beta-galactosidase deficiency. Each patient differed clinically and it is proposed that this method may be of use in characterizing various forms of beta-galactosidase deficiency.
摘要
在离子交换色谱法及随后的薄层色谱法之后，在3名β-半乳糖苷酶缺乏症患者中区分出了3种特殊的寡糖排泄模式。每名患者的临床症状都有所不同，有人提出该方法可能有助于鉴别β-半乳糖苷酶缺乏症的各种形式。
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