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Hyperinsulinism-Hypoglycemia-Hyperammonemia Syndrome: A New GLUD1 Mutation
The hyperinsulinism hypoglyemia hyperammonemia syndrome (SHI/HA) is the second most common syndrome of congenital hyperinsulinism. The gain of function mutations of the GLUD-1 gene that encodes for the mitochondrial enzyme ...
El síndrome metabólico: De factor agravante a principal factor de riesgo patogénico en diversas enfermedades crónicas
(Sociedad Médica de Santiago, 2010)
Association of acanthosis nigricans with race and metabolic disturbances in obese women
(Brazilian Journal of Medical and Biological Research, 2002-01)
Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome
(2019)
Beckwith-Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes controlled by imprinting centers H19DMR (Imprinting Center [IC] 1) and KvDMR ...
Prevalencia de síndrome metabólico en población adulta Chilena: Datos de la Encuesta Nacional de Salud 2003
(Sociedad Médica de Santiago, 2010)
Valores normativos de resistencia a la insulina mediante HOMA-IR en adultos mayores de Santiago de Chile
(Sociedad Médica de Santiago, 2009)
Efecto de la administración oral de zinc sobre sensibilidad a la insulina y niveles séricos de leptina y andrógenos en hombres con obesidad
(Sociedad Médica de Santiago, 2006)