Glycoproteinosis: Difference between revisions
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| name = Glycoproteinosis |
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'''Glycoproteinosis''' are [[lysosomal storage disease]]s<ref name="RodeckWhittle2008">{{cite book|author1=Charles H. Rodeck|author2=Martin J. Whittle|title=Fetal medicine: basic science and clinical practice|url= |
'''Glycoproteinosis''' are [[lysosomal storage disease]]s<ref name="RodeckWhittle2008">{{cite book|author1=Charles H. Rodeck|author2=Martin J. Whittle|title=Fetal medicine: basic science and clinical practice|url=https://books.google.com/books?id=xzMeQbHJX0AC&pg=PA362|accessdate=3 November 2010|date=27 October 2008|publisher=Elsevier Health Sciences|isbn=978-0-443-10408-4|pages=362–}}</ref> affecting [[glycoproteins]], resulting from defects in [[lysosome|lysosomal]] function. The term is sometimes reserved for conditions involving degradation of glycoproteins.<ref name="StickWilliams2008">{{cite book|author1=Robert V. Stick|author2=Spencer J. Williams|title=Carbohydrates: the essential molecules of life|url=https://books.google.com/books?id=alRrZW4D5JoC&pg=PA402|accessdate=3 November 2010|date=2 December 2008|publisher=Elsevier|isbn=978-0-240-52118-3|pages=402–}}</ref> |
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==Types== |
==Types== |
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** [[Sialidosis]] ([[mucolipidosis]] I) |
** [[Sialidosis]] ([[mucolipidosis]] I) |
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Another type, recently characterized, is [[galactosialidosis]].<ref name="pmid15084520">{{cite journal |vauthors=Bonten EJ, Wang D, Toy JN, etal |title=Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis |journal=FASEB J. |volume=18 |issue=9 |pages=971–3 |date=June 2004 |pmid=15084520 |doi=10.1096/fj.03-0941fje |url=http://www.fasebj.org/cgi/pmidlookup?view=long&pmid=15084520}}</ref> |
Another type, recently characterized, is [[galactosialidosis]].<ref name="pmid15084520">{{cite journal |vauthors=Bonten EJ, Wang D, Toy JN, etal |title=Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis |journal=FASEB J. |volume=18 |issue=9 |pages=971–3 |date=June 2004 |pmid=15084520 |doi=10.1096/fj.03-0941fje |doi-access=free |url=http://www.fasebj.org/cgi/pmidlookup?view=long&pmid=15084520}}</ref> |
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==References== |
==References== |
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{{reflist}} |
{{reflist}} |
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==External links== |
== External links == |
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{{Medical resources |
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* [http://www.ninds.nih.gov/news_and_events/proceedings/GlycoproteinosesWorkshopSummary.htm NIH] |
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* [http://www.mannosidosis.org/whatIsKnown.htm ISMRD] |
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| ICD10 = {{ICD10|E|77||e|70}} |
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| ICD9 = {{ICD9|271}}, {{ICD9|272.7}} |
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* [http://www.ninds.nih.gov/news_and_events/proceedings/GlycoproteinosesWorkshopSummary.htm NIH] {{Webarchive|url=https://web.archive.org/web/20060905045546/http://www.ninds.nih.gov/news_and_events/proceedings/GlycoproteinosesWorkshopSummary.htm |date=2006-09-05 }} |
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{{Glycoproteinoses}} |
{{Glycoproteinoses}} |
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Latest revision as of 23:17, 13 August 2024
| Glycoproteinosis | |
|---|---|
| Specialty | Endocrinology  |
Glycoproteinosis are lysosomal storage diseases[1] affecting glycoproteins, resulting from defects in lysosomal function. The term is sometimes reserved for conditions involving degradation of glycoproteins.[2]
Types
[edit]- (E77.0) Defects in post-translational modification of lysosomal enzymes
- Mucolipidosis II (I-cell disease)
- Mucolipidosis III (pseudo-Hurler polydystrophy)
- (E77.1) Defects in glycoprotein degradation
Another type, recently characterized, is galactosialidosis.[3]
References
[edit]- ^ Charles H. Rodeck; Martin J. Whittle (27 October 2008). Fetal medicine: basic science and clinical practice. Elsevier Health Sciences. pp. 362–. ISBN 978-0-443-10408-4. Retrieved 3 November 2010.
- ^ Robert V. Stick; Spencer J. Williams (2 December 2008). Carbohydrates: the essential molecules of life. Elsevier. pp. 402–. ISBN 978-0-240-52118-3. Retrieved 3 November 2010.
- ^ Bonten EJ, Wang D, Toy JN, et al. (June 2004). "Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis". FASEB J. 18 (9): 971–3. doi:10.1096/fj.03-0941fje. PMID 15084520.
External links
[edit]- NIH Archived 2006-09-05 at the Wayback Machine
 | This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it. |