GARGOYLISM (HURLER'S DISEASE). 1964

J KESSLER

UI MeSH Term Description Entries
D008059 Mucopolysaccharidosis I Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. Hurler's Syndrome,Hurler-Scheie Syndrome,Lipochondrodystrophy,Mucopolysaccharidosis V,Pfaundler-Hurler Syndrome,Scheie's Syndrome,Gargoylism,Gargoylism, Hurler Syndrome,Hurler Disease,Hurler Syndrome,Hurler's Disease,Mucopolysaccharidosis 1,Mucopolysaccharidosis 5,Mucopolysaccharidosis I-S,Mucopolysaccharidosis Type I,Mucopolysaccharidosis Type Ih,Mucopolysaccharidosis Type Ih S,Mucopolysaccharidosis Type Is,Scheie Syndrome,alpha-L-Iduronidase Deficiency,Disease, Hurler's,Gargoylisms,Hurler Scheie Syndrome,Hurler Syndrome Gargoylism,Lipochondrodystrophies,Mucopolysaccharidosis I S,Mucopolysaccharidosis Is,Mucopolysaccharidosis Type Ihs,Syndrome, Hurler's,Syndrome, Scheie's,Type Ih, Mucopolysaccharidosis,Type Ihs, Mucopolysaccharidosis,alpha L Iduronidase Deficiency,alpha-L-Iduronidase Deficiencies
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

J KESSLER
October 1952, The Journal of mental science,
J KESSLER
September 1974, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke,
J KESSLER
August 1957, Revista chilena de pediatria,
J KESSLER
June 1958, La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris,
J KESSLER
July 1951, A.M.A. archives of ophthalmology,
J KESSLER
January 1953, The Journal of mental science,
J KESSLER
January 1953, La Pediatria,
J KESSLER
July 1952, Minerva pediatrica,
J KESSLER
August 1950, Pediatria de las Americas,
J KESSLER
January 1950, Revista chilena de pediatria,
Copied contents to your clipboard!