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Journal of Pharmaceutical and Biomedical Analysis|August 9, 2019
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disordersFernando Andrade, Isidro Vitoria, Elena Martín Hernández, et al.European Journal of Human Genetics : EJHG|January 11, 2019
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening programRosa Navarrete, Fátima Leal, Ana I Vega, et al.Nutrients|March 14, 2026
Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose IntoleranceElsa Izquierdo-García, Edorta Mora, Dolores García-Arenas, et al.Orphanet Journal of Rare Diseases|December 1, 2014
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 casesElena Martín-Hernández, Luis Aldámiz-Echevarría, Esperanza Castejón-Ponce, et al.Clinical Genetics|January 18, 2019
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in SpainCelia Medrano, Ana Vega, Rosa Navarrete, et al.Orphanet Journal of Rare Diseases|December 16, 2023
Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA projectIrene Serrano-Gonzalo, Laura López de Frutos, Carlos Lahoz-Gil, et al.Clinical Nutrition (Edinburgh, Scotland)|March 10, 2026
Lipidomics uncovers metabolic manifestations related to liver steatosis and low-grade systemic inflammation in diet-treated hereditary fructose intolerance patientsJavier de Las Heras, María Unceta Suarez, Maria Mercado-Gómez, et al.Journal of Inherited Metabolic Disease|July 8, 2024
New variants expand the neurological phenotype of COQ7 deficiencyMaría Alcázar Fabra, Abraham J Paredes-Fuentes, Manuel Torralba Carnerero, et al.Nutrients|April 12, 2025
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish RegistryElena Martín-Hernández, Marcello Bellusci, Patricia Pérez-Mohand, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|December 18, 2019
Dietary practices in methylmalonic acidaemia: a European surveyAlex Pinto, Sharon Evans, Anne Daly, et al.Pageof 5