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disease > urinary system disease > kidney disease > tubulopathy > cystathioninuria
disease > genetic disease > hereditary disease > aminoacid disorder > cystathioninuria
disease > enzymopathy > aminoacid disorder > cystathioninuria

Terme préférentiel

cystathioninuria  

Définition(s)

  • Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder. It is characterized by an abnormal accumulation of plasma cystathionine leading to excess cystathionine in the urine. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-DK45KW8T-C

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