New Cases of Isolated Congenital Central Hypothyroidism Due to Homozygous Thyrotropin Beta Gene Mutations: A Pitfall to Neonatal Screening-Reference-Cited by-同舟云学术

New Cases of Isolated Congenital Central Hypothyroidism Due to Homozygous Thyrotropin Beta Gene Mutations: A Pitfall to Neonatal Screening

Published:2010-06 Issue:6 Volume:20 Page:639-645
ISSN:1050-7256
Container-title:Thyroid
language:en
Short-container-title:Thyroid

Author:

Ramos Helton E.¹²,Labedan Isabelle³,Carré Aurore¹,Castanet Mireille¹,Guemas Isabelle⁴,Tron Elodie¹,Madhi Fouad³,Delacourt Christophe⁵,Maciel Rui M.B.²,Polak Michel¹

Affiliation:

1. Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Necker Enfants-Malade, Assistance Publique-Hôpitaux de PARIS, Institut National de la Santé et de la Recherche Médicale (INSERM) U845 and Pediatric Endocrine Unit, Université Paris Descartes, Paris, France.

2. Laboratory of Molecular Endocrinology, Division of Endocrinology, Department of Medicine, Federal University of São Paulo, São Paulo, Brazil.

3. Service de Pediatrie, Centre Hospitalier de Creteil, Creteil, France.

4. Service de Pediatrie, CH de Lens, Lens, France.

5. Service de Pneumologie Pediatrique, Hôpital Necker Enfants-Malade, Paris, France.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/thy.2009.0462

Reference34 articles.

1. Mechanisms related to the pathophysiology and management of central hypothyroidism

2. Circulating Thyrotropin Bioactivity in Sporadic Central Hypothyroidism

3. Variable underestimates by serum free thyroxine (T4) immunoassays of free T4 concentrations in simple solutions

4. A Direct Free Thyroxine (T4) Immunoassay with the Characteristics of a Total T4 Immunoassay

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Thyroid-Stimulating Hormone;The Pituitary;2022

2. Neonatal Screening for Hyperthyroidism Proof of Concept;The Journal of Clinical Endocrinology & Metabolism;2021-12-11

3. Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology;Thyroid;2021-03-01

4. Hypothalamic and Pituitary Disorders Affecting the Fetus and Neonate;Maternal-Fetal and Neonatal Endocrinology;2020

5. A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING;Revista Paulista de Pediatria;2019-12