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Refetoff, Samuel
One or more keywords matched the following items that are connected to
Refetoff, Samuel
Item Type
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Concept
Hyperthyroxinemia, Familial Dysalbuminemic
Academic Article
Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine.
Academic Article
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene.
Academic Article
Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin.
Academic Article
Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.
Academic Article
An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.
Academic Article
Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading.
Academic Article
A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.
Academic Article
Inherited defects of thyroxine-binding proteins.
Academic Article
Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.
Academic Article
Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement.
Search Criteria
Hyperthyroxinemia Familial Dysalbuminemic