Menkes'kinky hair syndrome

Menkes'kinky hair syndrome
门克斯(氏)扭结发综合征:先天性代谢缺陷病

Medical Chinese dictionary (湘雅医学词典). 2013.

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  • Kinky hair syndrome — A genetic disorder, also known as Menkes syndrome, in which the hair is fragile and twisted ( kinky ) and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error of… …   Medical dictionary

  • Syndrome, kinky hair — A genetic disorder, also known as Menkes syndrome, in which the hair is fragile and twisted ( kinky ) and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error of… …   Medical dictionary

  • Menkes disease — Classification and external resources ATP7A ICD 10 E …   Wikipedia

  • Hair disease — Classification and external resources Hair follicle ICD 10 L63 …   Wikipedia

  • Menkes syndrome — A genetic disorder, also known as kinky hair syndrome, in which the hair is fragile and twisted ( kinky ) and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error of… …   Medical dictionary

  • Syndrome, Menkes — A genetic disorder, also known as the kinky hair syndrome, in which the hair is fragile and twisted ( kinky ) and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error… …   Medical dictionary

  • Menkes disease — an X linked recessive disorder of copper metabolism caused by mutations in the ATP7A gene (locus: Xq12 q13), which encodes a copper transporter. Features result from dysfunction of copper dependent enzymes and include sparse, brittle, twisted… …   Medical dictionary

  • Menkes' disease — Men·kes disease meŋ kəz , kə səz n a disorder of copper metabolism that is inherited as a recessive X linked trait and is characterized by a deficiency of copper in the liver and of copper containing proteins (as ceruloplasmin) which results in… …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Maladie De Menkès — La maladie de Menkès est un trouble du métabolisme du cuivre résultant d’une mutation du gène codant l’enzyme responsable du transport intracellulaire du cuivre. Les principales manifestations sont neurologiques avec changement de la texture des… …   Wikipédia en Français

  • Maladie de Menkes — Maladie de Menkès La maladie de Menkès est un trouble du métabolisme du cuivre résultant d’une mutation du gène codant l’enzyme responsable du transport intracellulaire du cuivre. Les principales manifestations sont neurologiques avec changement… …   Wikipédia en Français

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