Genetic heterogeneity in GM1-gangliosidosis.

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作者信息

Galjaard H, Hoogeveen A, de Wit-Verbeek H A, Reuser A J, Ho M W, Robinson D

出版信息

Nature. 1975 Sep 4;257(5521):60-2. doi: 10.1038/257060a0.

DOI:10.1038/257060a0

PMID:808736

Abstract

摘要

相似文献

Genetic heterogeneity in GM1-gangliosidosis.

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beta-Galactosidase deficiency in an adult: a biochemical and somatic cell genetic study on a variant of GM1-gangliosidosis.一名成年人的β-半乳糖苷酶缺乏症：关于GM1神经节苷脂贮积症一种变异型的生化及体细胞遗传学研究

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Neuronal-visceral GM1 gangliosidosis in a dog with beta-galactosidase deficiency.一只患有β-半乳糖苷酶缺乏症的犬的神经元-内脏GM1神经节苷脂贮积症

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[Lysosomal beta-galactosidase properties and the molecular genetics of GM1 gangliosidosis].[溶酶体β-半乳糖苷酶特性与GM1神经节苷脂贮积症的分子遗传学]

Vopr Med Khim. 1979 Nov-Dec;25(6):709-15.

[Gangliosidosis GM1. Clinical, radiologic, biochemical and histological studies in two cases (author's transl)].[GM1神经节苷脂贮积症。两例临床、放射学、生物化学及组织学研究（作者译）]

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An explanation for variations in the clinical and biochemical symptoms of lysosomal-enzyme deficiency diseases such as GM1 gangliosidosis [proceedings].

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A variant of GM1-gangliosidosis type 2 and enzymic differences between GM1-gangliosidosis types 1 and 2.

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引用本文的文献

GM1 Gangliosidosis: Mechanisms and Management.GM1神经节苷脂贮积症：发病机制与治疗

Appl Clin Genet. 2021 Apr 9;14:209-233. doi: 10.2147/TACG.S206076. eCollection 2021.

The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.溶酶体疾病检测实验室：过去47年回顾

JIMD Rep. 2020 Apr 4;54(1):61-67. doi: 10.1002/jmd2.12117. eCollection 2020 Jul.

New names for old disciplines.旧学科的新名称。

J Inherit Metab Dis. 2002 May;25(3):139-56. doi: 10.1023/a:1015669626590.

Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency.人类β-半乳糖苷酶和α-神经氨酸酶缺乏型黏脂贮积症：神经氨酸酶缺乏的遗传互补分析

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Turnover of beta-galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiency.不同基因类型β-半乳糖苷酶缺乏症患者成纤维细胞中β-半乳糖苷酶的周转率

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Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts.通过与溶酶体酶缺陷型人成纤维细胞杂交纠正I-细胞缺陷。

Am J Hum Genet. 1980 Jul;32(4):519-28.

The genetic defect in the various types of human beta-galactosidase deficiency.人类各种类型β-半乳糖苷酶缺乏症中的基因缺陷。

Hum Genet. 1980 Feb;53(2):241-7. doi: 10.1007/BF00273505.

A severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1.一种酷似1型GM1神经节苷脂贮积症的严重婴儿唾液酸沉积症（β-半乳糖苷酶-α-神经氨酸酶缺乏症）

Eur J Pediatr. 1983 Sep;140(4):295-8. doi: 10.1007/BF00442667.

Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis.黏脂贮积症II型和III型。溶酶体酶生物合成的两种疾病之间的遗传关系。

J Clin Invest. 1983 Sep;72(3):1016-23. doi: 10.1172/JCI111025.

Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants.体细胞杂交研究显示尼曼-皮克病不同变体中的基因突变。

Hum Genet. 1980;54(3):409-12. doi: 10.1007/BF00291589.

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