[对泰-萨克斯病变异型（O型变异型）携带者血液的酶学研究] - Suppr

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[Enzymatic studies on the blood of carriers of a Tay-Sachs disease variant (variant O)].

作者信息

Harzer K, Sandhoff K, Schall H, Kollmann F

出版信息

Klin Wochenschr. 1971 Nov 1;49(21):1189-91. doi: 10.1007/BF01732464.

DOI:10.1007/BF01732464

PMID:5124584

Abstract

摘要

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本文引用的文献

The chemical structure of normal human brain and Tay-Sachs gangliosides.

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Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.

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Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.

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[Tay-Sachs disease with hexosaminidase deficiency. Clinical, morphological and biochemical findings in a case with visceral storage of renal globosides].

Dtsch Med Wochenschr. 1968 Sep 27;93(39):1833-9 passim. doi: 10.1055/s-0028-1110836.

Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis.

Clin Chim Acta. 1970 Jun;28(3):397-402. doi: 10.1016/0009-8981(70)90064-1.

Enzyme alterations and lipid storage in three variants of Tay-Sachs disease.

J Neurochem. 1971 Dec;18(12):2469-89. doi: 10.1111/j.1471-4159.1971.tb00204.x.

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

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