Concepción Sierra-Córcoles

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BACKGROUND Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain. METHODS Observational, cross-sectional and multicenter study. Clinical, biochemical and genetic data were collected from patients(More)
We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement. Statistical analysis was used to compare MRI measurements [midsagittal vermis relative(More)
Sergio Aguilera-Albesa, MD PhD, Ramón Cancho Candela, MD PhD, Ma Llanos CarrascoMarina, MD, Francisco Carratalá, MD PhD,Ma Luz Couce, MD PhD, Ana Felipe,MD, Óscar García,MD,Ma TeresaGarcía-Silva, MD PhD, Luis G Gutiérrez-Solana, MD PhD, Alfons Macaya, MD PhD, Ma Concepción Miranda, MD PhD, Laura López, MD, Eduardo López-Laso, MD PhD, M Pilar Póo, MD PhD,(More)
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