Pediatría
Servicio
Pierre and Marie Curie University
París, FranciaPublicaciones en colaboración con investigadores/as de Pierre and Marie Curie University (10)
2024
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The genomic evolutionary dynamics and global circulation patterns of respiratory syncytial virus
Nature communications, Vol. 15, Núm. 1, pp. 3083
2022
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Postauthorization safety study of betaine anhydrous
Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733
2021
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Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing α-Galactosidase A
Molecular Therapy - Methods and Clinical Development, Vol. 20, pp. 1-17
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Treatment of Multisystem Inflammatory Syndrome in Children
New England Journal of Medicine, Vol. 385, Núm. 1, pp. 11-22
2020
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Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
The Lancet Neurology, Vol. 19, Núm. 10, pp. 840-848
2019
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
2018
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease
2016
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Valoración clínica del dolor en unidades de cuidados intensivos neonatales españolas
Anales de Pediatria, Vol. 85, Núm. 4, pp. 181-188
2015
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312
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Sedation and analgesia practices in neonatal intensive care units (EUROPAIN): Results from a prospective cohort study
The Lancet Respiratory Medicine, Vol. 3, Núm. 10, pp. 796-812