Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

Celia J Angaroni1, Raquel Dodelson de Kremer, Carlos E Argaraña

  • 1Centro de Estudio de las Metabolopatías Congénitas, CEMECO, Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina. celiangaroni@hotmail.com

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