Associated Papers
Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.
Bernhardt I et al.
American Journal of Medical Genetics. Part A, 2026
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.
Duś-Żuchowska M et al.
The American Journal of Case Reports, 2024
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