Galactosialidosis

Galactosialidosis
Classification and external resources
OMIM	256540
DiseasesDB	33441
eMedicine	/

Galactosialidosis is a lysosomal storage disease.^[1]

It is associated with cathepsin A.^[2]

References

1. ^ Koike K, Hamaguchi T, Kitamura H, Imasawa T, Joh K (2008). "Galactosialidosis associated with IgA nephropathy: morphological study of renal biopsy". Pathol. Int. 58 (5): 295–9. doi:10.1111/j.1440-1827.2008.02226.x. PMID 18429828. http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=1320-5463&date=2008&volume=58&issue=5&spage=295. 
2. ^ Kleijer WJ, Geilen GC, Janse HC, et al. (1996). "Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families". Pediatr. Res. 39 (6): 1067–71. doi:10.1203/00006450-199606000-00022. PMID 8725271. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=0031-3998&volume=39&issue=6&spage=1067. 

External links

• Neuraminidase deficiency with beta-galactosidase deficiency at NIH's Office of Rare Diseases
• Hide & Seek Foundation for Lysosomal Disease Research

v • d • e (LSD) Inborn error of carbohydrate metabolism: glycoproteinosis/mucolipidosis (E77, 272.7) Post-translational modification of lysosomal enzymes I-cell disease/II · Pseudo-Hurler polydystrophy/III Glycoprotein degradation Aspartylglucosaminuria · Fucosidosis · mannosidosis (Alpha-mannosidosis, Beta-mannosidosis) - Sialidosis/I Other Mucolipidosis type IV · Salla disease · Galactosialidosis see also enzymes, glycoproteins

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