A new phenotypic variant of alpha-L-iduronidase deficiency. 1978

G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen

UI MeSH Term Description Entries
D007068 Iduronidase An enzyme that hydrolyzes iduronosidic linkages in desulfated dermatan. Deficiency of this enzyme produces Hurler's syndrome. EC 3.2.1.76. alpha-L-Idosiduronase,alpha-L-Iduronidase,alpha L Idosiduronase,alpha L Iduronidase
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
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
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
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
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014644 Genetic Variation Genotypic differences observed among individuals in a population. Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic

Related Publications

G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen
June 1975, Lancet (London, England),
G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen
November 1977, Pediatrics,
G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen
August 1974, Lancet (London, England),
G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen
November 1974, Lancet (London, England),
G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen
October 1983, Proceedings of the National Academy of Sciences of the United States of America,
G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen
March 1985, American journal of medical genetics,
G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen
October 1976, The Tohoku journal of experimental medicine,
G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen
November 1982, The American journal of pathology,
G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen
December 1985, American journal of medical genetics,
G Kohn, and G Bach, and E Lasch, and M E Massri, and C Legum, and M M Cohen
April 1984, Lancet (London, England),
Copied contents to your clipboard!