(PDF) Congenital Primary Hypothyroidism With the Homozygous

Congenital Primary Hypothyroidism With the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-Sized Thyroid Gland on Levothyroxine Replacement

Internal Medicine - Japan

doi 10.2169/internalmedicine.1163-18

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September 15, 2019

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Japanese Society of Internal Medicine

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Congenital Primary Hypothyroidism With the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-Sized Thyroid Gland on Levothyroxine Replacement

Internal Medicine - Japan

doi 10.2169/internalmedicine.1163-18

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene

Mutation Screening of the Thyroid Peroxidase Gene in a Cohort of 55 Portuguese Patients With Congenital Hypothyroidism

Combined Levothyroxine Plus Liothyronine Compared With Levothyroxine Alone in Primary Hypothyroidism

Severe Cystic Fibrosis in a Child Homozygous for the G542 Nonsense Mutation in the CFTR Gene.

The Association Between Serum TSH Levels and BMI Percentiles in Children With Primary Hypothyroidism That Are Chemically Euthyroid on Levothyroxine Replacement

Two Siblings With Congenital Central Hypothyroidism Caused by a Novel Mutation in the IGSF1 Gene

Anti-Thyroid Peroxidase and Anti-Thyroglobulin Antibodies in Patients With Hypothyroidism

“Effects of Levothyroxine Replacement Therapy on Insulin Sensitivity in Subjects With Overt Hypothyroidism.”