Pediatrics
Service
Necker-Enfants Malades Hospital
París, FranciaPublications in collaboration with researchers from Necker-Enfants Malades Hospital (21)
2024
-
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
2022
-
Postauthorization safety study of betaine anhydrous
Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733
2021
-
Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
-
Treatment of Multisystem Inflammatory Syndrome in Children
New England Journal of Medicine, Vol. 385, Núm. 1, pp. 11-22
2020
-
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693
-
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Scientific Reports, Vol. 10, Núm. 1
2019
-
Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
-
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
Epilepsia Open, Vol. 4, Núm. 1, pp. 73-84
-
Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study
Frontiers in Neurology, Vol. 10, Núm. JUL
-
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
-
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
-
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
-
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
-
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
-
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
2015
-
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
-
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
-
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
-
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
-
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