On the molecular basis of Sandhoff's disease.

Humangenetik ·Vol. 20 ·No. 2 ·1973-00-00 ·Pages 167-70

Ropers HH, Schwantes U

Abstract

暂无摘要

MeSH Terms

Hexosaminidases/metabolism Humans Lipidoses/enzymology Metabolism, Inborn Errors/enzymology Syndrome

Chemicals

Hexosaminidases

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Ropers H H

Schwantes U

References (6)

6 references, click to expand

Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.
Life Sci. 1968 Mar 15;7(6):283-8 PMID: 5651108
N-Acetyl-beta-glucosaminidases in human spleen.
Biochem J. 1968 Apr;107(3):321-7 PMID: 5650361
Hexosaminidase-A and hexosaminidase-B: studies in Tay-Sachs' and Sandhoff's disease.
Nature. 1973 Feb 16;241(5390):463 PMID: 4122341
Independent loss of human hexosaminidases A and B in man-chinese hamster somatic cell hybrids.
Humangenetik. 1973 Apr 16;18(2):171-4 PMID: 4737100
Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.
N Engl J Med. 1970 Jul 2;283(1):15-20 PMID: 4986776
Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.
Science. 1969 Aug 15;165(3894):698-700 PMID: 5793973

Article Info

Journal

Humangenetik

Abbr.

Humangenetik

ISSN

0018-7348

DOI

Published

1973-00-00

Pages

167-70

Language

English

Region

Germany

NLM ID

7607154

Subset

External Links

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