BIOMAT Database Logo BIOMAT Database Logo

[Mucopolysaccharides I/H (Hurler's syndrome) a typical storage disease]. 1976

V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra

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
D008297 Male Males
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006025 Glycosaminoglycans Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine (see ACETYLGLUCOSAMINE) or N-acetylgalactosamine (see ACETYLGALACTOSAMINE). Glycosaminoglycan,Mucopolysaccharides
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra
[Urinary acid mucopolysaccharides in patients with Hurler's syndrome].
October 1970, Saishin igaku. Modern medicine,
V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra
Excretion of sulfated mucopolysaccharides in gargoylism (Hurler's syndrome).
February 1958, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.),
V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra
Mucopolysaccharidosis I-H (Hurler's syndrome) and human temporal bone histopathology.
January 1984, The Annals of otology, rhinology, and laryngology,
V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra
Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.
October 1966, Proceedings of the National Academy of Sciences of the United States of America,
V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra
[Urinary acid mucopolysaccharides in Hurler's syndrome and similar diseases].
December 1967, Nihon Shonika Gakkai zasshi. Acta paediatrica Japonica,
V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra
[Hurler's disease. Modification of urinary mucopolysaccharides after injection of fibroblasts].
May 1980, La Nouvelle presse medicale,
V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra
[Mucopolysaccharidosis type I, Hurler's syndrome].
January 1989, Stomatoloski glasnik Srbije,
V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra
[Urinary acidic mucopolysaccharides in normal individuals and patients with Hurler's syndrome].
June 1969, Nihon Shonika Gakkai zasshi. Acta paediatrica Japonica,
V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra
Decrease of urinary acid mucopolysaccharides in Hurler's syndrome after plasma infusion.
April 1974, The Tohoku journal of experimental medicine,
V R Ciorlia, and N Medeiros, and C A Rodrigues-Alves, and C Lamego, and S P de Almeida Toledo, and A B de Ulhôa-Cintra
On urinary acid mucopolysaccharides in a case of gargoylism (Hurler's syndrome). A preliminary note.
December 1965, Fukushima journal of medical science,
Copied contents to your clipboard!