P035: Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1

P035: Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1

Bibliographic Details
Main Authors:	Jeffrey Ehmsen, Nadav Weinstock, Shira Ziegler, Jacquelyn Britton, Tao Wang, Hilary Vernon
Format:	Article
Language:	English
Published:	Elsevier 2024-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S294977442400058X

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