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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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

The fetal diagnosis of galactosialidosis is performed by measuring carboxypeptidase (cathepsin A) activity in cultured villous cells and by immunofluorescence analysis with an antibody against an oligopeptide corresponding to the N-terminal domain of the human mature protective protein. Neither carboxypeptidase activity nor immunofluorescence was detected in cultured villous cells derived from an at-risk fetus or in cultured fibroblasts derived from the sister with galactosialidosis. Neuraminidase and beta-galactosidase activities were also confirmed to be deficient or low. A direct assay system for protective protein/cathepsin A is useful for the accurate prenatal diagnosis of galactosialidosis.[1]


  1. Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency). Itoh, K., Miharu, N., Ohama, K., Mizoguchi, N., Sakura, N., Sakuraba, H. Clin. Chim. Acta (1997) [Pubmed]
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