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Autor:
Domenic Filingeri, Sarah Mackey, Haley Soller, Alissa Guarneri-Tragone, James Cooper, Oscar Escobar, Jirair K. Bedoyan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101058- (2024)
Glycerol kinase deficiency (GKD) is a rare X-linked condition where glycerol cannot be phosphorylated to glycerol-3-phosphate, a key component of gluconeogenesis. Clinical presentation varies widely. We present a novel variant of the responsible GK i
Externí odkaz:
https://doaj.org/article/a5e57793beac40208d956ec9e79b50a8