ESPE Abstracts Search

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SGPL1 Deficiency Leads to Downregulation of Key Enzymes Within the Steroidogenic Pathway | ESPE2019
Avinaash Maharaj; Eirini Meimaridou; Jack Williams; Tülay Güran; Debora Braslavsky; Louise Metherell; Rathi Prasad
http://abstracts.eurospe.org/hrp/0092/hrp0092FC13.5
Published: 2019-08-22

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Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome | ESPE2016
Rathi Prasad; Avinaash Maharaj; Eirini Meimaridou; Paul VanVeldhoven; Federica Buonocore; Eliana Barbagaleta; Ignacio Bergada; H
http://abstracts.eurospe.org/hrp/0086/hrp0086fc15.2.htm
Published: 2016-08-19

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RNA Sequencing Reveals the Pathways Perturbed by Redox Imbalance in Nicotinamide Nucleotide Transhydrogenase Null Mice | ESPE2015
Eirini Meimaridou; Michelle Goldsworthy; Vasileios Chortis; Paul Foster; Wiebke Arlt; Roger Cox; Louise Metherell
http://abstracts.eurospe.org/hrp/0084/hrp0084fc-lb-1.htm
Published: 2015-08-26