Перевод: с английского на все языки

Scheie syndrome

См. также в других словарях:

  • Scheie syndrome — shī n an autosomal recessive mucopolysaccharidosis similar to Hurler s syndrome but less severe that is characterized by clouding of the cornea, slight deformity of the extremities, and disease of the aorta but not by mental retardation or early… …   Medical dictionary

  • Scheie syndrome — (also known as MPS V) ) is less severe version of Hurler s disease. It is a condition characterized by corneal clouding, facial dysmorphism, and normal lifespan [1] but unlike Hurler s, disease has normal intellect and .[2] See also Sanfilippo… …   Wikipedia

  • Scheie syndrome — Mucopolysaccharidosis (lysosomal disease) in which there is a defect in a L iduronidase. Fibroblasts from Scheie syndrome patients do not cross correct fibroblasts from Hurler&’s disease, although the two conditions are clinically distinct …   Dictionary of molecular biology

  • Hurler–Scheie syndrome — (also known as Mucopolysaccharidosis type I H S ) is a cutaneous condition, also characterized by mild mental retardation and corneal clouding.[1] See also Scheie syndrome List of cutaneous conditions References ^ Rapini, Ronald P.; Bolognia,… …   Wikipedia

  • Hurler-Scheie syndrome — Hur·ler Scheie syndrome (hurґlər shaґ) [G. Hurler; Harold G. Scheie, American ophthalmologist, 1909–1990] see under syndrome …   Medical dictionary

  • Hurler-Scheie syndrome — Although clinically distinct diseases, fibroblasts from patients with Hurler s and with Scheie syndrome do not cross complement in culture, suggesting that the enzyme defect is the same …   Dictionary of molecular biology

  • Hurler-Scheie syndrome — one of the three allelic disorders of mucopolysaccharidosis I, with clinical features intermediate between the Hurler and the Scheie syndromes, caused by deficiency of L iduronidase, and specifically characterized by receding chin (micrognathism) …   Medical dictionary

  • Syndrome, Hurler — An inherited error of metabolism in which there is deficiency of the enzyme alpha L iduronidase which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, there is an abnormal accumulation of… …   Medical dictionary

  • Scheie's syndrome — ▪ pathology also called  Mucopolysaccharidosis I S , or  Mps I S        uncommon hereditary metabolic disease characterized by clawing of the hands, corneal clouding, incompetence of the aortic valve of the heart, and painful nerve compression in …   Universalium

  • Syndrome de Hurler-Scheie-Hurler/Scheie — Syndrome de Hurler Syndrome de Hurler Autre nom Mucopolysaccharidose de type 1 Référence MIM …   Wikipédia en Français

  • 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