Pediatrics
Service
Copenhagen University Hospital
Copenhague, DinamarcaPublications in collaboration with researchers from Copenhagen University Hospital (18)
2024
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Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
The Journal of experimental medicine, Vol. 221, Núm. 2
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
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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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674
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Extremely Preterm Infant Admissions Within the SafeBoosC-III Consortium During the COVID-19 Lockdown
Frontiers in Pediatrics, Vol. 9
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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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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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106
2018
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Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)
Journal of Inherited Metabolic Disease
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Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)
Journal of Inherited Metabolic Disease
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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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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Journal of Inherited Metabolic Disease, Vol. 39, Núm. 5, pp. 661-672
2015
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation (J Inherit Metab Dis, 10.1007/s10545-015-9839-3)
Journal of Inherited Metabolic Disease
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (J Inherit Metab Dis, 10.1007/s10545-015-9840-x)
Journal of Inherited Metabolic Disease
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1041-1057
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1059-1074