Atypical adult GM1 gangliosidosis: Biochemical comparison with other forms of primary ß-galactosidase deficiency

Tatsuro Mutoh, Makoto Naoi, Akira Takahashi, Munemitsu Hoshino, Yoshiyuki Nagai, Toshiharu Nagatsu

研究成果: Article査読

14 被引用数 (Scopus)

抄録

We studied ß-galactosidase in skin fibroblasts from patients with different forms of ß-galactosidase deficiency: adult GM1 gangliosidosis, type 1 GMl gangliosidosis, and Morquio B syndrome. Enzyme properties in the adult cases differed from the other disorders and also from normal controls. Genetic hybridization studies indicated that all three forms belong to the same complementation group. Therefore, the adult disorder must be due to a mutation of the structural gene for ß-galactosidase, which is allelic to the mutations in type 1 GM1 gangliosidosis and Morquio B syndrome.

本文言語English
ページ(範囲)1237-1241
ページ数5
ジャーナルNeurology
36
9
DOI
出版ステータスPublished - 09-1986
外部発表はい

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

フィンガープリント 「Atypical adult G<sub>M1</sub> gangliosidosis: Biochemical comparison with other forms of primary ß-galactosidase deficiency」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

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