BIOMAT Database Logo BIOMAT Database Logo

[Study of a family with goiter caused by an iodine organification defect]. 1972

E Limbert, and L Botelho, and L Sobrinho

UI MeSH Term Description Entries
D007455 Iodine A nonmetallic element of the halogen group that is represented by the atomic symbol I, atomic number 53, and atomic weight of 126.90. It is a nutritionally essential element, especially important in thyroid hormone synthesis. In solution, it has anti-infective properties and is used topically. Iodine-127,Iodine 127
D008297 Male Males
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
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
D005260 Female Females
D006042 Goiter Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency (HYPOTHYROIDISM), or hormone overproduction (HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic (GOITER, ENDEMIC). Goiters
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

Related Publications

E Limbert, and L Botelho, and L Sobrinho
Iodide organification defect in iodine deficiency endemic goiter.
September 1978, The Journal of clinical endocrinology and metabolism,
E Limbert, and L Botelho, and L Sobrinho
A defective thyroid peroxidase solubilized from a familial goiter with iodine organification defect.
July 1974, The Journal of clinical endocrinology and metabolism,
E Limbert, and L Botelho, and L Sobrinho
Abnormal H2O2 supply in the thyroid of a patient with goiter and iodine organification defect.
August 1987, The Journal of clinical endocrinology and metabolism,
E Limbert, and L Botelho, and L Sobrinho
Iodine kinetics in organification defect.
April 1967, Folia endocrinologica,
E Limbert, and L Botelho, and L Sobrinho
Familial goiter due to an organification defect in euthyroid siblings.
August 1967, The Journal of clinical endocrinology and metabolism,
E Limbert, and L Botelho, and L Sobrinho
Peroxidase deficiency in familial goiter with iodide organification defect.
December 1971, The New England journal of medicine,
E Limbert, and L Botelho, and L Sobrinho
Peroxidase defect in congenital goiter with complete organification block.
February 1973, The Journal of clinical endocrinology and metabolism,
E Limbert, and L Botelho, and L Sobrinho
[Congenital hypothyroidism with goiter caused by defect in conversion of inorganic iodine to organic iodine].
January 1959, Revue francaise d'etudes cliniques et biologiques,
E Limbert, and L Botelho, and L Sobrinho
[GOITROUS HYPOTHYROIDISM CAUSED BY A DEFECT IN THE IODINE "ORGANIFICATION" PROCESS. A CASE REPORT ON TWINS].
January 1965, Revista espanola de pediatria,
E Limbert, and L Botelho, and L Sobrinho
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.
April 1996, Nature genetics,
Copied contents to your clipboard!