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Donohue syndrome and use of continuous subcutaneous insulin pump therapy

Donohue syndrome is a rare autosomal recessive condition caused by severe loss-of-function mutations in the insulin receptor (INSR) gene. The diagnosis is made on clinical, biochemical and genetic grounds. Mutations are found on chromosome 19p13.2, and code for mutations in the INSR gene. Treatment...

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Bibliografski detalji
Izdano u:BMJ Case Rep
Glavni autori: Huggard, Dean, Stack, Tom, Satas, Saulius, O Gorman, Clodagh
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2015
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4636693/
https://ncbi.nlm.nih.gov/pubmed/26508115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2015-210019
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