Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1

SUMMARY: Tyrosinaemia type 1 (TT1) is a rare inherited disorder of amino acid metabolism typically presenting with liver failure and renal tubular dysfunction. We describe three individuals with TT1 and transient hyperinsulinaemic hypoglycaemia (HH). Two siblings with TT1 and acute liver dysfunction...

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Detalles Bibliográficos
Autores principales: Sotiridou, Ellada, Hoermann, Henrike, Aftab, Sommayya, Dastamani, Antonia, Thimm, Eva, Doodson, Louise, Batzios, Spyros, Kummer, Sebastian, Shah, Pratik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7849471/
https://www.ncbi.nlm.nih.gov/pubmed/33431709
http://dx.doi.org/10.1530/EDM-20-0174

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7849471/
https://www.ncbi.nlm.nih.gov/pubmed/33431709
http://dx.doi.org/10.1530/EDM-20-0174

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