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Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Expanding the Clinical Phenotype and Novel Laboratory Findings.

Paivi Vieira, Irina I. Nagy,Elisa Rahikkala,Marja-Leena Vaisanen,Katariina Latva,Kari Kaunisto,Pekka Valmari,Riikka Keski-Filppula,Maria K. Haanpaa,Virpi Sidoroff,Paivi J. Miettinen, Tuula Arkkola,Marja Ojaniemi,Matti Nuutinen,Johanna Uusimaa,Paivi Myllynen

Journal of Inherited Metabolic Disease（2021）

Cited 7|Views44
Key words
citric acid cycle,gluconeogenesis,hypoglycemia,pediatrics,pck1,seizure
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