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Raquel Yahyaoui

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
2011 · David M.S. McHugh, Cynthia A. Cameron, et al. · Genetics in Medicine · 348
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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
2021 · J. Gerard Loeber, Dimitris Platis, et al. · International Journal of Neonatal Screening · 243
Associations of Maternal Vitamin B12 Concentration in Pregnancy With the Risks of Preterm Birth and Low Birth Weight: A Systematic Review and Meta-Analysis of Individual Participant Data
2016 · Tormod Rogne, Myrte J. Tielemans, et al. · American Journal of Epidemiology · 188
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Effect of Long-Term Administration of Cross-Sex Hormone Therapy on Serum and Urinary Uric Acid in Transsexual Persons
2008 · R. Yahyaoui, I. Esteva, et al. · The Journal of Clinical Endocrinology & Metabolism · 174
Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference
2018 · Stephan Lobitz, Paul Telfer, et al. · British Journal of Haematology · 148
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Enhanced interpretation of newborn screening results without analyte cutoff values
2012 · Gregg Marquardt, Robert Currier, et al. · Genetics in Medicine · 125
Amino Acid Transport Defects in Human Inherited Metabolic Disorders
2019 · Raquel Yahyaoui, Javier Pérez-Frías · International Journal of Molecular Sciences · 66
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Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm
2023 · Giancarlo la Marca, Rachel. S. Carling, et al. · International Journal of Neonatal Screening · 56
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Newborn screening for homocystinurias: Recent recommendations versus current practice
2019 · Rebecca Keller, Petr Chrastina, et al. · Journal of Inherited Metabolic Disease · 47
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Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
2020 · Diana Gallego, Fátima Leal, et al. · Human Mutation · 41
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Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias
2015 · Sabrina Malvagia, Christopher A. Haynes, et al. · Clinica Chimica Acta · 38
Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers
2017 · B. Merinero, P. Alcaide, et al. · JIMD Reports · 34
Analytical performance of a sensitive assay for cardiac troponin I with loci™ technology
2010 · M.M. Arrebola, J.A. Lillo, et al. · Clinical Biochemistry · 30
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
2019 · Rosa Navarrete, Fátima Leal, et al. · European Journal of Human Genetics · 28
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Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death
2011 · Raquel Yahyaoui, María Gracia Espinosa, et al. · Molecular Genetics and Metabolism · 25
Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
2014 · Hugo Rocha, Daisy Castiñeiras, et al. · JIMD Reports · 23
Characterization of lipid profile by nuclear magnetic resonance spectroscopy (1H NMR) of metabolically healthy obese women after weight loss with Mediterranean diet and physical exercise
2017 · Enrique Rodriguez-Garcia, Josefina Ruiz-Nava, et al. · Medicine · 18
Metabolic Serendipities of Expanded Newborn Screening
2020 · Raquel Yahyaoui, Javier Blasco-Alonso, et al. · Genes · 15
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
2024 · Javier de las Heras, Carolina Almohalla, et al. · Nutrients · 14
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Implications of the Mediterranean diet and physical exercise on the lipid profile of metabolically healthy obese women as measured by nuclear magnetic resonance spectroscopy ( 1 H NMR)
2018 · Enrique Rodriguez-Garcia, Josefina Ruiz-Nava, et al. · Chemistry and Physics of Lipids · 13
Serum Vitamin B12 Levels During the First Trimester of Pregnancy Correlate with Newborn Screening Markers of Vitamin B12 Deficiency
2014 · Anita Dayaldasani, Juan Ruiz-Escalera, et al. · International Journal for Vitamin and Nutrition Research · 11
Epidemiología de la transexualidad en Andalucía, atención especial al grupo de adolescentes
2006 · Isabel Esteva, M. Gonzalo, et al. · Cuadernos de medicina psicosomática y psiquiatria de enlace · 11
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
2022 · Alejandro Soriano-Sexto, Diana Gallego, et al. · International Journal of Molecular Sciences · 10
La cinética de la citrulina y la arginina y su valor como factor pronóstico en pacientes pediátricos críticamente enfermos
2015 · J. Blasco-Alonso, P. SánchezYáñez, et al. · Anales de Pediatría · 8
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
2019 · Fernando Andrade, Isidro Vitoria, et al. · Journal of Pharmaceutical and Biomedical Analysis · 7
Works count: 79
Citation count: 1,824
H-index: 17
I10-index: 23
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