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 — 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
