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N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.人源N-乙酰半乳糖胺-6-硫酸酯硫酸酯酶。黏多糖贮积症Ⅳ型中该酶的缺失。
J Clin Invest. 1976 Apr;57(4):1036-40. doi: 10.1172/JCI108345.
2
[Enzymatic diagnosis of classical Morquio syndrome (mucopolysaccharidosis IV A) (author's transl)].经典型莫尔基奥综合征（黏多糖贮积症IV A型）的酶学诊断（作者译）
Pediatr Med Chir. 1981 Sep-Oct;3(5):411-4.
3
Activities of N-acetylgalactosamine-6-sulfate sulfatase in liver from two sisters with morquio syndrome.患有黏多糖贮积症IV型的两姐妹肝脏中N-乙酰半乳糖胺-6-硫酸酯酶的活性。
Tohoku J Exp Med. 1980 May;131(1):53-7. doi: 10.1620/tjem.131.53.
4
A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease.一种用于诊断经典型黏多糖贮积症IV型中N-乙酰半乳糖胺-6-硫酸酯硫酸酯酶缺乏症的灵敏方法。
Clin Chim Acta. 1978 Aug 15;88(1):111-9. doi: 10.1016/0009-8981(78)90157-2.
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A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).一种用于诊断A型粘多糖贮积症（MPS IV A）的荧光酶测定法。
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Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome.非硫酸角质素排泄型黏多糖贮积症Ⅳ型的生化缺陷
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Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.IVA型黏多糖贮积症。经典型和轻型莫尔基奥氏综合征中N-乙酰半乳糖胺-6-硫酸酯硫酸酯酶外显子点突变
J Clin Invest. 1992 Sep;90(3):1049-53. doi: 10.1172/JCI115919.
8
Purification and properties of human N-acetylgalactosamine-6-sulfate sulfatase.人N-乙酰半乳糖胺-6-硫酸酯硫酸酯酶的纯化及性质
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Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.部分A型黏多糖贮积症IV型患者存在糖蛋白神经氨酸酶部分缺乏的情况。
Pediatr Res. 1984 Mar;18(3):302-5. doi: 10.1203/00006450-198403000-00025.
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Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.土耳其黏多糖贮积症IVA型（莫尔基奥氏综合征A型）患者的分子分析：N-乙酰半乳糖胺-6-硫酸酯硫酸酯酶（GALNS）基因新突变的鉴定
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Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.分子遗传学与新陈代谢特刊：黏多糖贮积症 IVA 的诊断、诊断和预后。
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本文引用的文献

1
A submicrodetermination of glucose.葡萄糖的亚微量测定
J Biol Chem. 1949 Nov;181(1):149-51.
2
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
3
Leukocyte preparations from human blood: evaluation of their morphologic and metabolic state.人血白细胞制剂：其形态和代谢状态的评估
J Lab Clin Med. 1962 May;59:779-91.
4
A note on the determination of the ester sulphate content of sulphated polysaccharides.关于硫酸化多糖酯硫酸盐含量测定的说明
Biochem J. 1962 Jul;84(1):106-10. doi: 10.1042/bj0840106.
5
Determination of inorganic sulphate in studies on the enzymic and non-enzymic hydrolysis of carbohydrate and other sulphate esters.碳水化合物及其他硫酸酯酶促水解和非酶促水解研究中无机硫酸盐的测定。
Biochem J. 1961 Feb;78(2):312-9. doi: 10.1042/bj0780312.
6
Turbidimetric measurement of acid mucopolysaccharides and hyaluronidase activity.酸性粘多糖和透明质酸酶活性的比浊法测定
J Biol Chem. 1956 May;220(1):303-6.
7
A rapid procedure for the estimation of amino sugars on a micro scale.一种微量规模估算氨基糖的快速方法。
Anal Biochem. 1966 Apr;15(1):167-71. doi: 10.1016/0003-2697(66)90262-4.
8
Purification and properties of bacterial chondroitinases and chondrosulfatases.细菌软骨素酶和软骨素硫酸酯酶的纯化及性质
J Biol Chem. 1968 Apr 10;243(7):1523-35.
9
Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion.通过血浆输注诱导黏多糖贮积症Ⅰ型和Ⅱ型中糖胺聚糖的降解
Proc Natl Acad Sci U S A. 1971 Feb;68(2):303-7. doi: 10.1073/pnas.68.2.303.
10
Sanfilippo disease: differentiation of types A and B by an analytical method.Sanfilippo病：通过一种分析方法对A 型和B型进行鉴别
J Lab Clin Med. 1974 Sep;84(3):438-50.

人源N-乙酰半乳糖胺-6-硫酸酯硫酸酯酶。黏多糖贮积症Ⅳ型中该酶的缺失。

N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.

作者信息

Singh J, Di Ferrante N, Niebes P, Tavella D

出版信息

J Clin Invest. 1976 Apr;57(4):1036-40. doi: 10.1172/JCI108345.

DOI:10.1172/JCI108345
PMID:820716
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC436747/
Abstract

Human N-acetylgalactosamine-6-sulfate sulfatase (6-sulfatase) activity is measured by using as a substrate a sulfated tetrasaccharide obtained by digesting purified chondroitin-6-sulfate (C-6-S) with testicular hyaluronidase. The amount of inorganic sulfate released is measured turbidimetrically. The enzyme from human kidney has a pH optimum of 4.8; its activity is augmented by low levels of NaCl and inhibited by phosphate and high levels of NaCl. Free glucuronate, acetylgalactosamine, inorganic sulfate, polymeric C-6-S, or tetrasaccharide obtained from chondroitin-4-sulfate do not affect the enzyme activity. The method may be used for the diagnosis of Morquio disease since extracts of Morquio fibroblasts are devoid of 6-sulfatase activity.

摘要

人N-乙酰半乳糖胺-6-硫酸酯硫酸酯酶（6-硫酸酯酶）活性的测定方法是，使用一种硫酸化四糖作为底物，该硫酸化四糖是通过用睾丸透明质酸酶消化纯化的硫酸软骨素-6-硫酸酯（C-6-S）获得的。通过比浊法测量释放的无机硫酸盐的量。人肾中的该酶最适pH为4.8；其活性在低水平NaCl存在时增强，而受磷酸盐和高水平NaCl抑制。游离葡萄糖醛酸、乙酰半乳糖胺、无机硫酸盐、聚合C-6-S或从硫酸软骨素-4-硫酸酯获得的四糖不影响该酶的活性。该方法可用于诊断黏多糖贮积症IV型，因为黏多糖贮积症IV型成纤维细胞的提取物缺乏6-硫酸酯酶活性。