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Hypoketotic hypoglycemia in citrin deficiency: a case report

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 severe h...

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Detalles Bibliográficos
Autores principales:	Wada, Yoichi, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Sakamoto, Osamu, Kure, Shigeo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507238/ https://www.ncbi.nlm.nih.gov/pubmed/32962675 http://dx.doi.org/10.1186/s12887-020-02349-6

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