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Fabry disease: Biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution

✍ Scribed by Tadayasu Togawa; Takahiro Tsukimura; Takashi Kodama; Toshie Tanaka; Ikuo Kawashima; Seiji Saito; Kazuki Ohno; Tomoko Fukushige; Takuro Kanekura; Atsushi Satomura; Duk-Hee Kang; Beom Hee Lee; Han-Wook Yoo; Kent Doi; Eisei Noiri; Hitoshi Sakuraba

Book ID
116989714
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
998 KB
Volume
105
Category
Article
ISSN
1096-7192

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📜 SIMILAR VOLUMES

A novel A97P amino acid substitution in
A novel A97P amino acid substitution in α-galactosidase A leads to a classical Fabry disease with cardiac manifestations
✍ K. Kimura; K.C. Sato-Matsumura; H. Nakamura; Y. Onodera; K. Morita; N. Enami; T. 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 190 KB

## Background: Fabry disease results from a genetic deficiency of alpha-galactosidase a (gla) activity. phenotype-genotype correlations in this condition have not as yet been fully elucidated. ## Objective: To report a case of a male patient with classical fabry disease and his mother, a heterozy