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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...

詳細記述

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書誌詳細
出版年:Sci Rep
主要な著者: Alhaidan, Yazeid, Larsen, Martin J., Schou, Anders Jørgen, Stenlid, Maria H., Al Balwi, Mohammed A., Christesen, Henrik Thybo, Brusgaard, Klaus
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005888/
https://ncbi.nlm.nih.gov/pubmed/32034166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-58845-3
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