Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children

Unexplained or idiopathic ketotic hypoglycemia (KH) is the most common type of hypoglycemia in children. The diagnosis is based on the exclusion of routine hormonal and metabolic causes of hypoglycemia. We aimed to identify novel genes that cause KH, as this may lead to a more targeted treatment. De...

Descripción completa

Detalles Bibliográficos
Autores principales: Alhaidan, Yazeid, Larsen, Martin J., Schou, Anders Jørgen, Stenlid, Maria H., Al Balwi, Mohammed A., Christesen, Henrik Thybo, Brusgaard, Klaus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005888/
https://www.ncbi.nlm.nih.gov/pubmed/32034166
http://dx.doi.org/10.1038/s41598-020-58845-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005888/
https://www.ncbi.nlm.nih.gov/pubmed/32034166
http://dx.doi.org/10.1038/s41598-020-58845-3

Ejemplares similares