Menkes syndrome — Menkes syndrome. См. синдром Менкеса. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
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
Menkes disease — Classification and external resources ATP7A ICD 10 E … Wikipedia
Menkes-Krankheit — Klassifikation nach ICD 10 E83.0 Störungen des Kupferstoffwechsels Menkes Syndrom … Deutsch Wikipedia
Menkes-Syndrom — Klassifikation nach ICD 10 E83.0 Störungen des Kupferstoffwechsels Menkes Syndrom … Deutsch Wikipedia
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, 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
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
Syndrome de la corne occipitale — Le syndrome de la corne occipitale est un trouble du métabolisme du cuivre résultant d’une mutation du gène codant l’enzyme responsable du transport intracellulaire du cuivre. Il s’agit de la forme mineure de la maladie de Menkès. Le nom de cette … Wikipédia en Français
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
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
