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Open Access 01-12-2017 | Letter to the Editor

Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy

Authors: Robert E. Brown, Senthil Senniappan, Khalid Hussain, Mary F. McGuire

Published in: Orphanet Journal of Rare Diseases | Issue 1/2017

Abstract

We first introduced the concept of the mTOR pathway’s involvement in congenital hyperinsulinism of infancy (CHI), based largely on morphoproteomic observations and clinical outcomes using sirolimus (rapamycin) as a therapeutic agent in infants refractory to octreotide and diazoxide treatment. Subsequent publications have verified the efficacy of such treatment in some cases but limited and variable in others. We present further evidence of a constant but variable role for the mTOR pathway in the biology of CHI and provide a strategy that allows for the short-term testing of sirolimus in individual CHI patients.

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Title: Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy
Authors: Robert E. Brown
Senthil Senniappan
Khalid Hussain
Mary F. McGuire
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2017
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-017-0735-9

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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