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Xu, C. Galactosialidosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/3967 (accessed on 29 September 2026).
Xu C. Galactosialidosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/3967. Accessed September 29, 2026.
Xu, Camila. "Galactosialidosis" Encyclopedia, https://encyclopedia.pub/entry/3967 (accessed September 29, 2026).
Xu, C. (2020, December 23). Galactosialidosis. In Encyclopedia. https://encyclopedia.pub/entry/3967
Xu, Camila. "Galactosialidosis." Encyclopedia. Web. 23 December, 2020.
Copy Citation
Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.
genetic conditions
References
- Groener J, Maaswinkel-Mooy P, Smit V, van der Hoeven M, Bakker J, Campos Y,d'Azzo A. New mutations in two Dutch patients with early infantilegalactosialidosis. Mol Genet Metab. 2003 Mar;78(3):222-8.
- Malvagia S, Morrone A, Caciotti A, Bardelli T, d'Azzo A, Ancora G, ZammarchiE, Donati MA. New mutations in the PPBG gene lead to loss of PPCA protein whichaffects the level of the beta-galactosidase/neuraminidase complex and theEBP-receptor. Mol Genet Metab. 2004 May;82(1):48-55.
- Matsumoto N, Gondo K, Kukita J, Higaki K, Paragison RC, Nanba E. A case ofgalactosialidosis with a homozygous Q49R point mutation. Brain Dev. 2008Oct;30(9):595-8. doi: 10.1016/j.braindev.2008.01.012.
- Nobeyama Y, Honda M, Niimura M. A case of galactosialidosis. Br J Dermatol.2003 Aug;149(2):405-9.
- Patel MS, Callahan JW, Zhang S, Chan AK, Unger S, Levin AV, Skomorowski MA,Feigenbaum AS, O'Brien K, Hellmann J, Ryan G, Velsher L, Chitayat D.Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.Am J Med Genet. 1999 Jul 2;85(1):38-47.
- Takiguchi K, Itoh K, Shimmoto M, Ozand PT, Doi H, Sakuraba H. Structural andfunctional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. J Hum Genet. 2000;45(4):200-6.
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