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Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency)

✍ Scribed by Kohji Itoh; Norio Miharu; Koso Ohama; Nobuyuki Mizoguchi; Nobuo Sakura; Hitoshi Sakuraba


Book ID
117075608
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
177 KB
Volume
266
Category
Article
ISSN
0009-8981

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Galactosialidosis is a recessively inherited lysosomal storage disease characterized by the combined deficiency of neuraminidase and beta-galactosidase secondary to the genetic deficiency of cathepsin A/protective protein. In lysosomes, cathepsin A forms a high-molecular-weight complex with beta-gal

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