Novel storage products in human beta-mannosidosis.

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作者信息

Hokke C H, Duran M, Dorland L, van Pelt J, van Sprang F J

机构信息

University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.

出版信息

J Inherit Metab Dis. 1990;13(3):273-6. doi: 10.1007/BF01799371.

DOI:10.1007/BF01799371

PMID:2122084

Abstract

摘要

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Novel storage products in human beta-mannosidosis.

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本文引用的文献

Human beta-mannosidase deficiency.

N Engl J Med. 1986 Nov 6;315(19):1231.

1,6-Anhydro-beta-D-glucopyranose (beta-glucosan), a constituent of human urine.

Clin Chim Acta. 1986 Aug 30;159(1):11-6. doi: 10.1016/0009-8981(86)90161-0.

Beta-mannosidosis in two brothers with hearing loss.

J Inherit Metab Dis. 1988;11 Suppl 2:255-8. doi: 10.1007/BF01804251.

Human beta-mannosidase deficiency.

N Engl J Med. 1986 Nov 6;315(19):1201-5. doi: 10.1056/NEJM198611063151906.

Characterization by gas-liquid chromatography-mass spectrometry and proton-magnetic-resonance spectroscopy of pertrimethylsilyl methyl glycosides obtained in the methanolysis of glycoproteins and glycopeptides.

Biochem J. 1975 Dec;151(3):491-5. doi: 10.1042/bj1510491.

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