2-hydroxyglutaric aciduria (Q4596888)
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amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage
- 2-hydroxyglutaric acidemia
Language | Label | Description | Also known as |
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English | 2-hydroxyglutaric aciduria |
amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage |
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Statements
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270.8
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C128187
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Identifiers
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Sitelinks
Wikipedia(4 entries)
- cawiki Acidúria 2-hidroxiglutàrica
- dewiki 2-Hydroxy-Glutarazidurie
- enwiki 2-Hydroxyglutaric aciduria
- rowiki Aciduria 2-Hidroxiglutarică