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MENKES SYNDROME [1 record]

Record 1 2004-01-22

English

Subject field(s)
  • Symptoms (Medicine)
DEF

Congenital defect of copper metabolism manifested in short, sparse, poorly pigmented kinky hair; associated with failure to thrive, physical and mental retardation, and progressive severe deterioration of the brain; apparently a defect of copper transport; X-linked recessive inheritance.

French

Domaine(s)
  • Symptômes (Médecine)
DEF

Maladie héréditaire intestinale du cuivre entraînant des lésions osseuses pseudoscorbiques, un aspect particulier des cheveux, une hypocuprémie avec diminution très importante du cuivre céruléoplamatique dans le sérum et du cuivre dans les tissus.

Spanish

Campo(s) temático(s)
  • Síntomas (Medicina)
DEF

Anomalía patológica hereditaria caracterizada por anomalías en el metabolismo del cobre.

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