BIOMAT Database Logo BIOMAT Database Logo

Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency. 1974

J Spranger, and J Gehler, and J F O'Brien, and M Cantz

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002239 Carbohydrate Metabolism, Inborn Errors Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero. Carbohydrate Metabolism, Inborn Error
D002807 Chondroitin A mucopolysaccharide constituent of chondrin. (Grant & Hackh's Chemical Dictionary, 5th ed)
D003871 Dermatan Sulfate A naturally occurring glycosaminoglycan found mostly in the skin and in connective tissue. It differs from CHONDROITIN SULFATE A (see CHONDROITIN SULFATES) by containing IDURONIC ACID in place of glucuronic acid, its epimer, at carbon atom 5. (from Merck, 12th ed) Chondroitin Sulfate B,beta-Heparin,Sulfate B, Chondroitin,Sulfate, Dermatan,beta Heparin
D005260 Female Females
D006026 Glycoside Hydrolases Any member of the class of enzymes that catalyze the cleavage of the glycosidic linkage of glycosides and the addition of water to the resulting molecules. Endoglycosidase,Exoglycosidase,Glycohydrolase,Glycosidase,Glycosidases,Glycoside Hydrolase,Endoglycosidases,Exoglycosidases,Glycohydrolases,Hydrolase, Glycoside,Hydrolases, Glycoside
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

J Spranger, and J Gehler, and J F O'Brien, and M Cantz
Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency.
August 1974, Lancet (London, England),
J Spranger, and J Gehler, and J F O'Brien, and M Cantz
Letter: Phenotypic variation in alpha-L-iduronidase deficiency.
June 1975, Lancet (London, England),
J Spranger, and J Gehler, and J F O'Brien, and M Cantz
Hurler's syndromes without alpha-L-iduronidase deficiency.
November 1977, Pediatrics,
J Spranger, and J Gehler, and J F O'Brien, and M Cantz
Atypical Hurler syndrome without alpha-L-iduronidase deficiency.
October 1976, The Tohoku journal of experimental medicine,
J Spranger, and J Gehler, and J F O'Brien, and M Cantz
Proceedings: Alpha-L-iduronidase deficiency associated with chondroitin sulphate mucopolysaccharidosis.
April 1975, Archives of disease in childhood,
J Spranger, and J Gehler, and J F O'Brien, and M Cantz
A new phenotypic variant of alpha-L-iduronidase deficiency.
January 1978, Monographs in human genetics,
J Spranger, and J Gehler, and J F O'Brien, and M Cantz
Variation in neuronal storage in alpha-L-iduronidase deficiency.
December 1985, American journal of medical genetics,
J Spranger, and J Gehler, and J F O'Brien, and M Cantz
A canine model of human alpha-L-iduronidase deficiency.
October 1983, Proceedings of the National Academy of Sciences of the United States of America,
J Spranger, and J Gehler, and J F O'Brien, and M Cantz
Microtest for determination of alpha-L-iduronidase in plasma and leucocytes and its potential for diagnosing alpha-L-iduronidase deficiency.
April 1984, Lancet (London, England),
J Spranger, and J Gehler, and J F O'Brien, and M Cantz
Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I.
November 1982, The American journal of pathology,
Copied contents to your clipboard!