Pediatría
Servizo
University Hospital of Lausanne
Lausana, SuizaPublicacións en colaboración con investigadores/as de University Hospital of Lausanne (10)
2023
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Adeno-associated virus 2 infection in children with non-A–E hepatitis
Nature, Vol. 617, Núm. 7961, pp. 555-563
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Genomic investigations of unexplained acute hepatitis in children
Nature, Vol. 617, Núm. 7961, pp. 564-573
2022
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Postauthorization safety study of betaine anhydrous
Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733
2020
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Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study
Neurology, Vol. 95, Núm. 21, pp. E2866-E2879
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Whole-exome sequencing for the identification of rare variants in primary immunodeficiency genes in children with sepsis: A prospective, population-based cohort study
Clinical Infectious Diseases, Vol. 71, Núm. 10, pp. E614-E623
2019
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Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
Scientific Reports, Vol. 9, Núm. 1
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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
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Plasma lipid profiles discriminate bacterial from viral infection in febrile children
Scientific Reports, Vol. 9, Núm. 1
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The natural history of classic galactosemia: Lessons from the GalNet registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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