Iodotyrosine Deiodinase Defect Identified via Genome-Wide Approach | Zendy

Agnès Burniat | Zendy; Isabelle Pirson | Zendy; Catheline Vilain | Zendy; Willem Kulik | Zendy; Gijs Afink | Zendy; Rodrigo MorenoReyes | Zendy; Bernard Corvilain | Zendy; Marc Abramowicz | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Iodotyrosine Deiodinase Defect Identified via Genome-Wide Approach

Author(s) -

Agnès Burniat,

Isabelle Pirson,

Catheline Vilain,

Willem Kulik,

Gijs Afink,

Rodrigo MorenoReyes,

Bernard Corvilain,

Marc Abramowicz

Publication year - 2012

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2011-3314

Subject(s) - deiodinase , congenital hypothyroidism , endocrinology , euthyroid , medicine , diiodotyrosine , goiter , thyroid , iodine deficiency , mutation , iodothyronine deiodinase , proband , biology , genetics , gene , triiodothyronine

Diagnosis of congenital hypothyroidism is hampered by the heterogeneity of inborn errors of thyroid metabolism and the possible delay in hypothyroidism development leading to missed cases by neonatal screen.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research