Pediatría
Departamento
University Medical Center Hamburg-Eppendorf
Hamburgo, AlemaniaPublicaciones en colaboración con investigadoras/es de University Medical Center Hamburg-Eppendorf (20)
2024
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ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
Blood, Vol. 144, Núm. 11, pp. 1193-1205
2023
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Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification
Acta Neuropathologica, Vol. 145, Núm. 5, pp. 651-666
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Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130
2020
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Human Mutation, Vol. 41, Núm. 4, pp. 837-849
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Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis
Journal of Clinical Immunology, Vol. 40, Núm. 6, pp. 901-916
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Stem cell transplantation for children with hemophagocytic lymphohistiocytosis: Results from the HLH-2004 study
Blood Advances, Vol. 4, Núm. 15, pp. 3754-3766
2019
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A multicenter study of patients with multisystem Langerhans cell histiocytosis who develop secondary hemophagocytic lymphohistiocytosis
Cancer, Vol. 125, Núm. 6, pp. 963-971
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International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
Molecular Genetics and Metabolism, Vol. 127, Núm. 1, pp. 1-11
2018
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Joint data analysis in nutritional epidemiology: Identification of observational studies and minimal requirements
Journal of Nutrition, Vol. 148, Núm. 2, pp. 285-297
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Recommendations for the Use of Etoposide-Based Therapy and Bone Marrow Transplantation for the Treatment of HLH: Consensus Statements by the HLH Steering Committee of the Histiocyte Society
Journal of Allergy and Clinical Immunology: In Practice, Vol. 6, Núm. 5, pp. 1508-1517
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Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis
Blood, Vol. 132, Núm. 19, pp. 2088-2096
2017
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Confirmed efficacy of etoposide and dexamethasone in HLH treatment: Long-Term results of the cooperative HLH-2004 study
Blood, Vol. 130, Núm. 25, pp. 2728-2738
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Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome
Journal of Pediatrics, Vol. 189, pp. 72-78.e3
2016
2015
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Lack of bone lesions at diagnosis is associated with inferior outcome in multisystem langerhans cell histiocytosis of childhood
British Journal of Haematology, Vol. 169, Núm. 2, pp. 241-248
2014
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Herpes simplex virus encephalitis is a trigger of brain autoimmunity
Annals of Neurology, Vol. 75, Núm. 2, pp. 317-323
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Quality of survival and growth in children and young adults in the PNET4 European controlled trial of hyperfractionated versus conventional radiation therapy for standard-risk medulloblastoma
International Journal of Radiation Oncology Biology Physics, Vol. 88, Núm. 2, pp. 292-300
2013
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Langerhans cell histiocytosis (LCH): Guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years
Pediatric Blood and Cancer, Vol. 60, Núm. 2, pp. 175-184
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Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis
Blood, Vol. 121, Núm. 25, pp. 5006-5014
2012
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Hyperfractionated versus conventional radiotherapy followed by chemotherapy in standard-risk medulloblastoma: Results from the randomized multicenter HIT-SIOP PNET 4 trial
Journal of Clinical Oncology, Vol. 30, Núm. 26, pp. 3187-3193