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Mariela De Los Santos

Observed names: De Los Santos, Mariela, Mariela de Los Santos, Mariela de los Santos, Mariela de los Santos Mercedes
OpenAlex ID: A5104104170
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
2023 · Trine Tangeraas, Juliana R Constante, et al. · Brain · 36
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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
2022 · Elena Martín-Hernández, Pilar Quijada-Fraile, et al. · Journal of Clinical Medicine · 14
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism
2019 · Alba-Aina Castells, Daniela Gueraldi, et al. · Scientific Reports · 10
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Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia
2024 · Beatriz Minguez, Mariela de Los Santos, et al. · Antioxidants · 3
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry
2025 · Elena Martín-Hernández, Marcello Bellusci, et al. · Nutrients · 2
Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry
2026 · Raquel Yahyaoui, Pilar Quijada-Fraile, et al. · International Journal of Neonatal Screening · 1
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Epidemiological Characteristics of Pediatric Patients with Intestinal Failure in Spain: Data from the REPAFI Registry
2025 · Marta Germán-Díaz, Rocío González-Sacristán, et al. · Nutrients · 1
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Works count: 8
Citation count: 67
H-index: 3
I10-index: 3
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