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ACERULOPLASMINEMIE [1 record]

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Record 1 2010-04-16

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
CONT

Aceruloplasminemia [is a] generally recessive deficiency of ceruloplasmin resulting in dementia, ataxia, diabetes, etc.

OBS

Ceruloplasmin mediates the peroxidation of transferrin FeII to the FeIII form.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
CONT

[...] l’acéruloplasminémie, une maladie récessive rare, due à une mutation dans le gène codant pour la céruloplasmine, et caractérisée par une neurodégénérescence associée à un diabète et à une rétinopathie, a été expliquée par une interaction entre la céruloplasmine et la ferritine, et que la protéine responsable de la maladie de Friedreich est, elle aussi, impliquée dans le métabolisme du fer.

Spanish

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