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Mostrando ítems 1-10 de 23

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

2019- Barbosa-Gouveia, S.; González Vioque, Emiliano; Borges ., Filipa; Gutiérrez-Solana, L.; Wintjes, L.; [et al.]

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

2019- Couce Pico, María Luz; Sánchez Pintos, Paula; Aldámiz-Echevarría, L.; Vitoria, I.; Navas, V.; [et al.]

Effects of LC-PUFA Supplementation in Patients with Phenylketonuria: A Systematic Review of Controlled Trials

2019- Couce Pico, María Luz; De Castro López, María José; de Lamas, C.; Leis Trabazo, María Rosaura

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

2019- Castells, A. A.; Gueraldi, D.; Balada, R.; Tristán-Noguero, A.; Cortès-Saladelafont, E.; [et al.]

Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems

2019- Álvarez González, José Victor; Herrero Filgueira, Carolina; González, A. F.; Colón Mejeras, Cristobal; Beiras Iglesias, A.; [et al.]

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment

2019- Bravo-Alonso, I.; Navarrete, R.; Vega, A. I.; Ruíz-Sala, P.; García Silva, M. T.; [et al.]

Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder

2020- Couce Pico, María Luz; Sánchez Pintos, Paula; González Vioque, Emiliano; Leis Trabazo, María Rosaura

Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease

2020- De Castro López, María José; González Vioque, Emiliano; Barbosa Gouveia, Sofía; Salguero, E.; Rite, S.; [et al.]

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

2020- Barbosa Gouveia, Sofía; González Vioque, Emiliano; Hermida Ameijeiras, Alvaro; Suarez, M. U.; Martinez-Gonzalez, M. J.; [et al.]

Metabolic Bone Disease of Prematurity: Risk Factors and Associated Short-Term Outcomes

2020- Avila Alvarez, Alejandro; Urisarri Ruiz de Cortázar, Adela; Fuentes Carballal, Jesús; Mandía Rodríguez, Natalia; SUCASAS ALONSO, ANDREA; [et al.]

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