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Search Results to Samuel Refetoff

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

One or more keywords matched the following items that are connected to Refetoff, Samuel

Item TypeName
Concept Intellectual Disability
Concept Mental Retardation, X-Linked
Academic Article The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products.
Academic Article Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Academic Article X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
Academic Article Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene.
Academic Article Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
Academic Article The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.
Academic Article Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
Academic Article Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Academic Article AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.

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  • Intellectual Disability