Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
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R. Rodenburg | P. Myllynen | C. V. van Karnebeek | A. Rolfs | S. Santra | Linhua Zhang | J. Cameron | M. Nuutinen | J. Uusimaa | Päivi Vieira | J. Moilanen | E. Rahikkala | A. Matthews | Riikka Keski‐Filppula