黏多糖贮积症Ⅰ型中尿酸性黏多糖的出现情况。 - Suppr

OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.

作者信息

Dorfman A, Lorincz A E

机构信息

DEPARTMENT OF PEDIATRICS, UNIVERSITY OF CHICAGO, AND LA RABIDA JACKSON PARK SANITARIUM, CHICAGO, ILLINOIS.

出版信息

Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):443-6. doi: 10.1073/pnas.43.6.443.

DOI:10.1073/pnas.43.6.443

PMID:16590037

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC528477/

Abstract

摘要

相似文献

OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.

Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):443-6. doi: 10.1073/pnas.43.6.443.

The disorder of hyaluronic acid metabolism in cultured skin fibroblasts derived from a patient with the Hurler syndrome.

Biochem J. 1973 Mar;132(3):403-8. doi: 10.1042/bj1320403.

Clinical and biochemical effects of long-term vitamin A administration to a patient with Hurler-Scheie compound.

Braz J Med Biol Res. 1984;17(1):43-7.

Accumulation of sulfate-containing acid mucopolysaccharides in I-cell fibroblasts.

J Lab Clin Med. 1975 Oct;86(4):672-82.

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.

Science. 1967 Aug 18;157(3790):804-6. doi: 10.1126/science.157.3790.804.

Studies on acid mucopolysaccharides in urine. 1. On urinary acid mucopolysaccharides from patients with mongolism (Down's syndrome).

Fukushima J Med Sci. 1965 Dec;12(3):89-101.

TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HURLER-PFAUNDLER'S DISEASE.

Proc Natl Acad Sci U S A. 1957 Sep 15;43(9):783-90. doi: 10.1073/pnas.43.9.783.

The structure of acid mucopolysaccharides produced by Hurler fibroblasts in tissue culture.

Proc Natl Acad Sci U S A. 1968 May;60(1):179-85. doi: 10.1073/pnas.60.1.179.

[Studies on acid mucopolysaccharides in the urine. I. On urinary acid mucopolysaccharides in mongolism].

Nihon Shonika Gakkai Zasshi. 1965 Oct;69(10):904-9.

[Histochemical and biochemical studies in gargoylism (Pfaundler--Hurler syndrome)].

Virchows Arch Pathol Anat Physiol Klin Med. 1961;334:379-98.

引用本文的文献

Spinal involvement in mucopolysaccharidoses: a review.

Childs Nerv Syst. 2015 Feb;31(2):203-12. doi: 10.1007/s00381-014-2578-1. Epub 2014 Oct 31.

Mucopolysacccharidoses: From understanding to treatment, a century of discoveries.

Genet Mol Biol. 2012 Dec;35(4 (suppl)):924-31. doi: 10.1590/s1415-47572012000600006. Epub 2012 Dec 18.

MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome).

J Inherit Metab Dis. 2013 Mar;36(2):329-37. doi: 10.1007/s10545-013-9585-3. Epub 2013 Feb 13.

TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HURLER-PFAUNDLER'S DISEASE.

Proc Natl Acad Sci U S A. 1957 Sep 15;43(9):783-90. doi: 10.1073/pnas.43.9.783.

Histochemical and electron microscopic study in a case of Hurler's disease.

Am J Pathol. 1962 Sep;41(3):273-86.

HURLER'S SYNDROME: A HISTOCHEMICAL STUDY. NEW TECHNIQUES FOR LOCALIZATION OF VERY WATER-SOLUBLE ACID MUGOPOLYSACCHARIDES.

Am J Pathol. 1964 Dec;45(6):1007-27.

GARGOYLISM: A STUDY OF FOUR CASES.

Indian J Pediatr. 1964 Jan;31:21-3. doi: 10.1007/BF02751676.

[SYSTEMATIZED HYALINOSIS COMBINED WITH POLYDYSTROPHIC EPIDERMOLYSIS BULLOSA AND SKIN AND MUCOUS MEMBRANE HYALINOSIS].

Arch Klin Exp Dermatol. 1963 Dec 19;218:30-51.

MUCOPOLYSACCHARIDOSIS: PAPER ELECTROPHORETIC AND INFRA-RED ANALYSIS OF THE URINE IN GARGOYLISM AND MORQUIO-ULLRICH'S DISEASE.

Arch Dis Child. 1963 Aug;38(200):364-74. doi: 10.1136/adc.38.200.364.

THE DIAGNOSTIC VALUE OF ISOLATED URINARY MUCOPOLYSACCHARIDES AND OF LYMPHOCYTE INCLUSIONS IN GARGOYLISM.

Arch Dis Child. 1963 Aug;38(200):358-63. doi: 10.1136/adc.38.200.358.

本文引用的文献

Uronic Acid of Chondroitin Sulfate B.

Science. 1956 Dec 21;124(3234):1252. doi: 10.1126/science.124.3234.1252.

On the presence of sialic acid in certain glycoproteins and in gangliosides.

Acta Soc Med Ups. 1952;57(3-4):230-41.

Gargoylism; a mucopolysaccharidosis.

Scand J Clin Lab Invest. 1952;4(1):43-6. doi: 10.3109/00365515209060631.

The mucopolysaccharides of the ground substance of connective tissue.

Science. 1951 May 25;113(2943):596-9. doi: 10.1126/science.113.2943.596.

Determination of the chondroitinase activity of bovine testicular preparations.

J Biol Chem. 1951 Jan;188(1):327-34.

The mucopolysaccharide of normal human urine.

Clin Chim Acta. 1956 Nov-Dec;1(6):519-24. doi: 10.1016/0009-8981(56)90039-0.

Heritable disorders of connective tissue. VII. The Hurler syndrome.

J Chronic Dis. 1956 Apr;3(4):360-89. doi: 10.1016/0021-9681(56)90138-2.

Chemical nature of the storage substance in gargoylism, Hurler-Pfaundler's disease.

AMA Arch Pathol. 1955 Sep;60(3):308-18.

The metabolism of mucopolysaccharides in animals. I. Isolation from skin.

J Biol Chem. 1954 Dec;211(2):717-24.

Identification of amino sugars by paper chromatography.

Arch Biochem Biophys. 1954 Oct;52(2):373-9. doi: 10.1016/0003-9861(54)90137-x.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献

本文引用的文献