Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis
Ana Catarina Alves, Joana Rita Chora, Beatriz Miranda, Ana Margarida Medeiros et autres
4 citationsJournal of clinical lipidology
Silvia Meavilla
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28Publications signalées
369Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Metabolism and Genetic DisordersFolate and B Vitamins ResearchDiet and metabolism studiesMitochondrial Function and PathologyChildhood Cancer Survivors' Quality of Life
Publications récentes
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
Javier de las Heras, Carolina Almohalla, Javier Blasco‐Alonso, Mafalda Bourbon et autres
13 citationsNutrients
526P Clinical spectrum and treatment in paediatric TANGO2 deficiency disorder
C. Ortez Gonzalez, B. Ortuño, Georgia Sarquella‐Brugada, Silvia Meavilla et autres
0 citationsNeuromuscular Disorders
Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia
Beatriz Pérez-Monte Mínguez, Mariela De Los Santos, Camila García‐Volpe, Cristina Molera et autres
2 citationsAntioxidants
Sitosterolemia in Iberoamerican countries: New cases and phenotype genotype analysis
Ana Catarina Alves, Joana Rita Chora, Bernardo de Paula de Miranda, Virginia Bañares et autres
1 citationAtherosclerosis
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
Sonia Pajares, José Antonio Arranz, Aída Ormazábal, Mireia del Toro et autres
0 citationsOrphanet Journal of Rare Diseases
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Elena Martín‐Hernández, Pilar Quijada‐Fraile, Patricia Correcher Medina, Silvia Meavilla et autres
13 citationsJournal of Clinical Medicine
Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease
Paula Sánchez‐Pintos, Silvia Meavilla, María Goretti López-Ramos, Ángeles García‐Cazorla et autres
5 citationsFrontiers in Pediatrics
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
Sonia Pajares, José Antonio Arranz, Aída Ormazábal, Mireia del Toro et autres
30 citationsOrphanet Journal of Rare Diseases
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism
A Castells, Daniela Gueraldi, Rafel Balada, Alba Tristán‐Noguero et autres
10 citationsScientific Reports
Maternal metabolic defects detected through expanded newborn screening in Catalonia
Sonia Pajares, Rolando Martínez López, José Manuel González de Aledo‐Castillo, Javier López Marín et autres
0 citationsClinica Chimica Acta
Plasma coenzyme Q10 status is impaired in selected genetic conditions
Raquel Montero, Dèlia Yubero, Maria Cristina de Oliveira Salgado, Marı́a Julieta González et autres
34 citationsScientific Reports
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