Pediatría
Servizo
Karolinska University Hospital
Estocolmo, SueciaPublicacións en colaboración con investigadores/as de Karolinska University Hospital (16)
2023
2022
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A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
Communications Biology, Vol. 5, Núm. 1
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Children living with HIV in Europe: do migrants have worse treatment outcomes?
HIV Medicine, Vol. 23, Núm. 2, pp. 186-196
2021
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A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 5, pp. 1124-1135
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Treatment of Multisystem Inflammatory Syndrome in Children
New England Journal of Medicine, Vol. 385, Núm. 1, pp. 11-22
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Variations in Neonatal Length of Stay of Babies Born Extremely Preterm: An International Comparison Between iNeo Networks
Journal of Pediatrics, Vol. 233, pp. 26-32.e6
2020
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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 726-736
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The impact of gender, puberty, and pregnancy in patients with POLG disease
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 2019-2025
2019
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Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
Epilepsia Open, Vol. 4, Núm. 1, pp. 73-84
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Newborn screening for homocystinurias: Recent recommendations versus current practice
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139
2017
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ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
Scientific Reports, Vol. 7
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Somapacitan, a once-weekly reversible albumin-binding GH derivative, in children with GH deficiency: A randomized dose-escalation trial
Clinical Endocrinology, Vol. 87, Núm. 4, pp. 350-358
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
2014
2010
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Management of phenylketonuria in Europe: Survey results from 19 countries
Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115