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Concept information

disease > genetic disease > hereditary disease > aminoacid disorder > citrullinemia
disease > enzymopathy > aminoacid disorder > citrullinemia

Terme préférentiel

citrullinemia  

Définition(s)

  • Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. (Wikipedia)

Concept(s) générique(s)

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URI

http://data.loterre.fr/ark:/67375/VH8-S7WFFBX7-8

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020