Hypoketotic hypoglycemia in citrin deficiency: a case report

Abstract Background Citrin deficiency (CD) is a recessive metabolic disease caused by biallelic pathogenic variants in SLC25A13. Although previous studies have reported ketosis in CD, it was observed at the time of euglycemia or mild hypoglycemia. Blood ketone levels concomitant with symptomatic or...

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Main Authors: Yoichi Wada (Author), Natsuko Arai-Ichinoi (Author), Atsuo Kikuchi (Author), Osamu Sakamoto (Author), Shigeo Kure (Author)
Format: Book
Published: BMC, 2020-09-01T00:00:00Z.
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3rd Floor Main Library

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