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1
The mucopolysaccharidoses.黏多糖贮积症
J Med Genet. 1976 Jun;13(3):169-81. doi: 10.1136/jmg.13.3.169.
2
Lack of relationship between blood and urine levels of glycosaminoglycans and lysomal enzymes.糖胺聚糖和溶酶体酶的血液与尿液水平之间缺乏关联。
Biochem Med. 1975 Apr;12(4):331-9. doi: 10.1016/0006-2944(75)90064-2.
3
[Enzymatic diagnosis of glycolipidosis].[糖脂贮积病的酶学诊断]
Quad Sclavo Diagn. 1972 Mar;8(1):183-98.
4
Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.β-葡萄糖醛酸酶缺乏性黏多糖贮积症：酶学诊断方法
J Lab Clin Med. 1973 Dec;82(6):969-77.
5
Enzyme defects of glycosaminoglycan degradation in the mucopolysaccharidoses.黏多糖贮积症中糖胺聚糖降解的酶缺陷
Dev Med Child Neurol. 1974 Aug;16(4):534-9. doi: 10.1111/j.1469-8749.1974.tb03381.x.
6
The mucopolysaccharidoses (a review).黏多糖贮积症（综述）
Proc Natl Acad Sci U S A. 1976 Feb;73(2):630-7. doi: 10.1073/pnas.73.2.630.
7
[Mucopolisaccharidoses, Enzyme deficiencies (author's transl)].
Postepy Biochem. 1976;22(1):17-26.
8
[Synergistic action of chondriotin-4-sulfate protein degrading enzymes of arterial tissue].
Z Klin Chem Klin Biochem. 1968 Jun;6(4):244-50.
9
Abnormal distribution of lysosomal isoenzymes in mucopolysaccharidosis.黏多糖贮积症中溶酶体同工酶的异常分布。
Arch Int Physiol Biochim. 1972 Dec;80(5):972-3.
10
The biochemical basis for mucopolysaccharidoses and mucolipidoses.黏多糖贮积症和黏脂贮积症的生化基础。
Prog Med Genet. 1974;10:81-101.

引用本文的文献

1
Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses.基于荧光的黏多糖贮积症新生儿筛查新方法
Diagnostics (Basel). 2020 May 11;10(5):294. doi: 10.3390/diagnostics10050294.
2
Oral manifestation and root canal therapy of the patient with mucopolysaccharidosis.黏多糖贮积症患者的口腔表现及根管治疗
Restor Dent Endod. 2019 Apr 4;44(2):e14. doi: 10.5395/rde.2019.44.e14. eCollection 2019 May.
3
Newborn screening and diagnosis of mucopolysaccharidoses.新生儿筛查与黏多糖贮积症的诊断。
Mol Genet Metab. 2013 Sep-Oct;110(1-2):42-53. doi: 10.1016/j.ymgme.2013.06.007. Epub 2013 Jun 21.
4
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.IVA 型黏多糖贮积症的临床特征和诊断回顾。
Mol Genet Metab. 2013 Sep-Oct;110(1-2):54-64. doi: 10.1016/j.ymgme.2013.04.002. Epub 2013 Apr 10.
5
Ultrastructure of myocardium in the Hurler syndrome. Possible relation to cardiac function.黏多糖贮积症Ⅰ型心肌的超微结构。与心脏功能的可能关系。
Virchows Arch A Pathol Anat Histol. 1982;394(3):195-205. doi: 10.1007/BF00430665.
6
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.

本文引用的文献

1
TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HURLER-PFAUNDLER'S DISEASE.黏多糖在胡勒-普凡德勒病中的组织储存
Proc Natl Acad Sci U S A. 1957 Sep 15;43(9):783-90. doi: 10.1073/pnas.43.9.783.
2
OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.黏多糖贮积症Ⅰ型中尿酸性黏多糖的出现情况。
Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):443-6. doi: 10.1073/pnas.43.6.443.
3
Gargoylism; a mucopolysaccharidosis.承雷氏病；一种黏多糖贮积症。
Scand J Clin Lab Invest. 1952;4(1):43-6. doi: 10.3109/00365515209060631.
4
Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease.黏多糖贮积症Ⅱ型患者尿液中硫酸角质素的分离与鉴定
Proc Soc Exp Biol Med. 1962 Aug-Sep;110:847-9. doi: 10.3181/00379727-110-27668.
5
The nomenclature of mucopolysaccharides.黏多糖的命名法。
Arthritis Rheum. 1960 Jun;3:233-7. doi: 10.1002/art.1780030306.
6
Enzumatic formation of monosaccharides from hyaluronate.由透明质酸盐通过酶促反应形成单糖。
J Biol Chem. 1955 Mar;213(1):237-48.
7
[PURIFICATION AND PROPERTIES OF A BETA-N-ACETYL-D-HEXOSAMINIDASE FROM CATTLE SPLEEN].
Z Naturforsch B. 1964 Sep;19:798-800.
8
[STUDIES ON THE CHEMISTRY OF THE ARTERIAL WALL. VII. PURIFICATION AND PROPERTIES OF BETA-ACETYLGLUCOSAMINIDASE FROM THE AORTA OF CATTLE].
Hoppe Seylers Z Physiol Chem. 1965;340:257-72. doi: 10.1515/bchm2.1965.340.1-2.257.
9
THE PRESENCE OF HYALURONIDASE IN VARIOUS MAMMALIAN TISSUES.多种哺乳动物组织中透明质酸酶的存在。
J Biol Chem. 1963 Nov;238:3522-7.
10
Long-term corticosteroid therapy in Hurler syndrome.
Am J Dis Child. 1963 Jul;106:3-10. doi: 10.1001/archpedi.1963.02080050005003.

The mucopolysaccharidoses.

作者信息

Pennock C A, Barnes I C

出版信息

J Med Genet. 1976 Jun;13(3):169-81. doi: 10.1136/jmg.13.3.169.

DOI:10.1136/jmg.13.3.169
PMID:132532
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013390/
Abstract
摘要