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- Q4412533 subject Q6853484.
- Q4412533 subject Q6902466.
- Q4412533 subject Q8493015.
- Q4412533 abstract "Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. The disease is caused by a defect in an enzyme known as aspartylglucosaminidase. This enzyme plays a significant role in our bodies because it aids in breaking down certain sugars (for example, oligosaccharides) that are attached to specific proteins (for example, glycoproteins). Aspartylglucosaminuria itself is characterized as a lysosomal disease because it does deal with inadequate activity in an enzyme's function. Aspartylglucosaminidase functions to break down glycoproteins. These proteins are most abundant in the tissues of the body and in the surfaces of major organs, such as the liver, spleen, thyroid and nerves. When glycoproteins are not broken down, aspartylglucosaminidase backs up in the lysosomes along with other substances. This backup causes progressive damage to the tissues and organs.".
- Q4412533 wikiPageExternalLink www.hideandseek.org.
- Q4412533 wikiPageExternalLink www.ismrd.org.
- Q4412533 wikiPageExternalLink www.raretrait.com.
- Q4412533 wikiPageWikiLink Q1128050.
- Q4412533 wikiPageWikiLink Q1144039.
- Q4412533 wikiPageWikiLink Q1321695.
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- Q4412533 wikiPageWikiLink Q320607.
- Q4412533 wikiPageWikiLink Q33.
- Q4412533 wikiPageWikiLink Q40878.
- Q4412533 wikiPageWikiLink Q41571.
- Q4412533 wikiPageWikiLink Q47715.
- Q4412533 wikiPageWikiLink Q6279182.
- Q4412533 wikiPageWikiLink Q6853484.
- Q4412533 wikiPageWikiLink Q6902466.
- Q4412533 wikiPageWikiLink Q7162.
- Q4412533 wikiPageWikiLink Q83330.
- Q4412533 wikiPageWikiLink Q84230.
- Q4412533 wikiPageWikiLink Q8493015.
- Q4412533 wikiPageWikiLink Q886837.
- Q4412533 wikiPageWikiLink Q9368.
- Q4412533 wikiPageWikiLink Q9371.
- Q4412533 comment "Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. The disease is caused by a defect in an enzyme known as aspartylglucosaminidase. This enzyme plays a significant role in our bodies because it aids in breaking down certain sugars (for example, oligosaccharides) that are attached to specific proteins (for example, glycoproteins).".
- Q4412533 label "Aspartylglucosaminuria".