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Article

Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P.

Journal of pediatric gastroenterology and nutrition - 1 Jan 2012

Peña-Quintana Luis, García-Luzardo María R, García-Villarreal Luis, Arias-Santos María D, Garay-Sánchez Paloma, Santana Alfredo, González-Santana Daniel, Ramos-Varela Juan C, Rial-González Ramiro, Tugores Antonio

Abstract excerpt

OBJECTIVES: The aim of the study was to characterize a group of 11 pediatric patients, ages 3 to 13 years, affected by Wilson disease (WD) in the island of Gran Canaria, Spain. PATIENTS AND METHODS: Genetic, biochemical, and pathological features, together with their response to treatment and clinical evolution, have been analyzed for this group of patients. RESULTS: Genetically, the group was rather homogeneous,...

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PMID: 21832955
DOI: 10.1097/MPG.0b013e318230130c

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