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。
相似文献
1
Urinary oligosaccharide screening in patients with beta-galactosidase deficiency.β-半乳糖苷酶缺乏症患者的尿寡糖筛查
Eur J Pediatr. 1980 May;133(3):269-71. doi: 10.1007/BF00496087.
2
Simple laboratory determination of excess oligosacchariduria.简单的实验室检测以确定是否存在过量低聚糖尿。
Clin Chem. 1981 Feb;27(2):243-5.
3
Urinary sialyloligosaccharides in adult type sialidosis: occurrence of two positional isomers.成人型唾液酸沉积症中的尿唾液酸寡糖：两种位置异构体的出现
Jpn J Exp Med. 1981 Apr;51(2):129-32.
4
Improved selectivity of urinary oligosaccharide screening using two one-dimensional TLC systems.使用两种一维薄层层析系统提高尿寡糖筛查的选择性。
J Inherit Metab Dis. 1996;19(2):260-2. doi: 10.1007/BF01799445.
5
Lactosuria in the African with lactase deficiency.非洲乳糖酶缺乏者的乳糖尿症。
Am J Dig Dis. 1968 Jul;13(7):634-7. doi: 10.1007/BF02232970.
6
Increased excretion of two sialic acid-containing trisaccharides in the urine of patients with rheumatoid arthritis.类风湿性关节炎患者尿液中两种含唾液酸三糖的排泄增加。
Eur J Clin Invest. 1978 Dec;8(6):405-9. doi: 10.1111/j.1365-2362.1978.tb00872.x.
7
Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.莫尔基奥B病，与酸性β-半乳糖苷酶缺乏相关的脊柱骨骺发育不良。一个家族中的三例报告。
Hum Genet. 1983;64(1):50-4. doi: 10.1007/BF00289478.
8
Detection of some clinically important carbohydrates in plasma and urine by means of thin-layer chromatography.通过薄层色谱法检测血浆和尿液中一些具有临床重要性的碳水化合物。
Clin Chim Acta. 1971 May;32(3):355-9. doi: 10.1016/0009-8981(71)90435-9.
9
Assessment of intestinal permeability: enzymatic determination of urinary mannitol, raffinose, sucrose and lactose on Hitachi analyzer.肠道通透性评估：使用日立分析仪通过酶法测定尿液中的甘露醇、棉子糖、蔗糖和乳糖。
Clin Chem Lab Med. 2003 Jan;41(1):33-8. doi: 10.1515/CCLM.2003.007.
10
Beta-galactosidase deficiency: studies of two patients with prolonged survival.β-半乳糖苷酶缺乏症：对两名长期存活患者的研究。
Am J Med Genet. 1980;5(3):235-45. doi: 10.1002/ajmg.1320050304.
引用本文的文献
1
Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism. A review of screening for differential diagnosis.糖脂、糖蛋白和糖原代谢紊乱时的尿低聚糖排泄。鉴别诊断筛查综述。
Eur J Pediatr. 1980 Sep;134(3):183-94. doi: 10.1007/BF00441471.
2
The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases.糖蛋白贮积病患者中含神经氨酸的尿寡糖的简易检测
J Inherit Metab Dis. 1983;6(4):153-7. doi: 10.1007/BF02310870.
本文引用的文献
1
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.与β-半乳糖苷酶缺乏相关的Morquio综合征（黏多糖贮积症IV B型）。两例报告。
Am J Hum Genet. 1980 Mar;32(2):258-72.
2
Generalized gangliosidosis: beta-galactosidase deficiency.全身性神经节苷脂沉积症：β-半乳糖苷酶缺乏症。
Science. 1968 May 31;160(3831):1002-4. doi: 10.1126/science.160.3831.1002.
3
4
Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?局限性β-半乳糖苷酶缺乏症。在伴有肌阵挛性癫痫和黄斑樱桃红斑的小脑共济失调中的发生——GM1神经节苷脂贮积症的一种新变异型？
Arch Intern Med. 1974 Oct;134(4):627-34. doi: 10.1001/archinte.134.4.627.
5
A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria.一种伴有β-半乳糖苷酶缺乏和糖肽尿症的新型黏脂贮积症。
Tohoku J Exp Med. 1972 Aug;107(4):303-15. doi: 10.1620/tjem.107.303.
6
Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency.信函：弥漫性躯体血管角质瘤与溶酶体酶缺乏症。
Lancet. 1974 Sep 28;2(7883):785. doi: 10.1016/s0140-6736(74)90984-2.
7
Letter: Beta-galactosidase deficiency in young adults.信件：年轻成年人中的β-半乳糖苷酶缺乏症。
Lancet. 1974 Nov 30;2(7892):1319-20. doi: 10.1016/s0140-6736(74)90173-1.
8
Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography.糖蛋白贮积病患者尿液中的寡糖。I. 用薄层色谱法进行快速检测。
Clin Chim Acta. 1975 Apr 16;60(2):143-5. doi: 10.1016/0009-8981(75)90119-9.
9
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.脊椎骨骺发育不良、角膜混浊、智力正常及酸性β-半乳糖苷酶缺乏症。
Clin Genet. 1976 May;9(5):495-504. doi: 10.1111/j.1399-0004.1976.tb01603.x.
10
Characterization of oligosaccharides and glycopeptides excreted in the urine of GMl-gangliosidosis patients.GM1-神经节苷脂贮积症患者尿液中排泄的寡糖和糖肽的特征分析
Biochem Biophys Res Commun. 1975 Sep 2;66(1):123-30. doi: 10.1016/s0006-291x(75)80303-2.
Zotero 插件