Search Results - "Vidal, J. Macías"
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Effects of Phytase and Microalgae Supplementation on the Utilization of Aquafeeds for European Seabass (Dicentrarchus labrax) Formulated with a High Inclusion Level of Plant Protein
Published in Aquaculture research (06-05-2024)“…Numerous studies have reported the disadvantages of using plant protein in aquafeeds owing to the presence of antinutritional factors. Particularly, phytate…”
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Molecular analysis of 30 Niemann-Pick type C patients from Spain
Published in Clinical genetics (01-07-2011)“…Macías‐Vidal J, Rodríguez‐Pascau L, Sánchez‐Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ, the Spanish NPC Working Group. Molecular analysis of 30…”
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Analysis of the CTNS gene in 32 cystinosis patients from Spain
Published in Clinical genetics (01-11-2009)Get full text
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Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series
Published in Molecular genetics and metabolism (01-04-2010)“…Niemann–Pick disease type C (NP-C) is an inherited neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration…”
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Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-11-2010)“…Niemann-Pick type C is a lysosomal storage disorder caused by a defect in intracellular trafficking of cholesterol. It is a rare disease, usually caused by…”
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3FC1.2 Niemann-Pick disease type C when to give and discontinue treatment with substrate inhibitor therapy
Published in European journal of paediatric neurology (01-05-2011)Get full text
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Enfermedad de Niemann-Pick tipo C: desde una colestasis neonatal hacia un deterioro neurológico. Variabilidad fenotípica
Published in Anales de pediatría (Barcelona, Spain : 2003) (2010)“…Resumen Introducción La enfermedad de Niemann-Pick tipo C está causada por un defecto en el transporte intracelular de colesterol que produce un acúmulo de…”
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