Galactosialidosis

Galactosialidosis
Galactosialidosis
Classification and external resources
OMIM 256540
DiseasesDB 33441

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

v · d · e(LSD) Inborn error of carbohydrate metabolism: glycoproteinosis (E77, 271.8)
Anabolism
Post-translational modification
of lysosomal enzymes
Catabolism
Other
solute carrier family (Salla disease) · Galactosialidosis

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)



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  • galactosialidosis — noun A form of sialidosis …   Wiktionary

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  • Goldberg syndrome — galactosialidosis …   Medical dictionary

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  • Cathepsin A — Cathepsin A, also known as CTSA, is a human gene.cite web | title = Entrez Gene: CTSA cathepsin A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=5476| accessdate = ] PBB Summary section title = summary… …   Wikipedia

  • Glycoproteinosis — ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Glycoproteinosis (or glycoprotein storage disorders ) are lysosomal storage diseases affecting glycoproteins, resulting from defects in lysosomal function.Types* (E77.0)… …   Wikipedia

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