Browsing FCM - Congresos 2013 by Author "Paschini Capra, Agustín"
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Genetic defects in the liver phosphorylase system in Argentine patients nosological definition through a strategy of enzimatic and molecular analysis
Agaroni, Celia Juana; Giner Ayala, Alicia; Castillo, Angéles; Paschini Capra, Agustín; Dodelson de Kremer, Raquel; Lanza, Victoria (Universidad Nacional de Córdoba. Facultad de Ciencias Médicas., 2013)The phosphorylase and phosphorylase-b kinase (PHK) deficiencies in the liver constitute the phosphorylase system defects (PSD), leading to Glycogenosis Type VI (GSD-VI) and Type IX (GSD-IX), respectively. The hepatic ...