Paula
Sánchez Pintos
Instituto de Salud Carlos III
Madrid, EspañaPublicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (7)
2024
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CLINICAL SUSPICION AND INITIAL DIAGNOSTIC STUDIES IN INHERITED METABOLIC DISEASES
BOLETIN DE PEDIATRIA, Vol. 64, Núm. 267, pp. 29-38
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
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Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic
Nutrients, Vol. 16, Núm. 3
2022
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Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease
Frontiers in Pediatrics, Vol. 10
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Journal of Clinical Medicine, Vol. 11, Núm. 10
2021
2020
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Clinical utility of lct genotyping in children with suspected functional gastrointestinal disorder
Nutrients, Vol. 12, Núm. 10, pp. 1-16