Dictionary of molecular biology. 2004.
Hurler's disease — noun hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation • Syn: ↑Hurler s syndrome,… … Useful english dictionary
Hurler syndrome (disease) — Hur·ler syndrome (disease) (hurґlər) [Gertrud Hurler, Austrian pediatrician, 1889–1965] see under syndrome … Medical dictionary
Hurler syndrome — Classification and external resources ICD 10 E76.0 ICD 9 277.5 … Wikipedia
Hurler's syndrome — Hur·ler s syndrome hər lərz , hu̇r or Hur·ler syndrome hər lər , hu̇r n a mucopolysaccharidosis that is inherited as an autosomal recessive trait and is characterized by deformities of the skeleton and features, hepatosplenomegaly, restricted… … Medical dictionary
Hurler syndrome — 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
Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… … Medical dictionary
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
Hurler's syndrome — ▪ pathology also called Gargoylism, or Mucopolysaccharidosis I, one of several rare genetic disorders involving a defect in the metabolism of mucopolysaccharides, the class of polysaccharides that bind water to unite cells and to… … Universalium
Hurler — Gertrud, Austrian pediatrician, 1889–1965. See H. disease, H. syndrome, Pfaundler H. syndrome … Medical dictionary
monogenic disease — noun an inherited disease controlled by a single pair of genes • Syn: ↑monogenic disorder • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑ … Useful english dictionary
