Metabolomic Profiling of Body Fluids in Mouse Models Demonstrates that Nuclear Magnetic Resonance Is a Putative Diagnostic Tool for the Presence of Thyroid Hormone Receptor α1 Mutations

Houda Boumaza,Suzy Markossian,Baptiste Busi,Gilles J. P. Rautureau,Karine Gauthier,Bénédicte Elena-Herrmann,Frédéric Flamant

Metabolomic Profiling of Body Fluids in Mouse Models Demonstrates that Nuclear Magnetic Resonance Is a Putative Diagnostic Tool for the Presence of Thyroid Hormone Receptor α1 Mutations

2019

Houda Boumaza
Suzy Markossian
Baptiste Busi
Gilles J. P. Rautureau
Karine Gauthier
Bénédicte Elena-Herrmann
Frédéric Flamant

Background: Resistance to thyroid hormone alpha (RTHα) is a rare genetic disease due to mutations in the THRA gene, which encodes thyroid hormone receptor alpha 1 (TRα1). Since its first descriptio...

Keywords:

Internal medicine
Disease
Diabetes mellitus
Rare disease
Endocrinology
Medicine
Hormone
Thyroid hormone receptor
Thyroid
Alpha (ethology)
Gene
Metabolomics

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