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, Klinik für Allgemeine Pädiatrie mit Schwerpunkt Neuropädiatrie
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Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.
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Glut1 Deficiency Syndrome (Glut1DS) : State of the art in 2020 and recommendations of the international Glut1DS study groupIn: Epilepsia Open, Jg. 5, 2020, Nr. 3, S. 354 – 365DOI (Open Access)
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10 patients, 10 years - Long term follow-up of cardiovascular risk factors in Glut1 deficiency treated with ketogenic diet therapies : A prospective, multicenter case seriesIn: Clinical Nutrition, Jg. 37, 2018, Nr. 6, Part A, S. 2246 – 2251DOI (Open Access)
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Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes : A randomized controlled trialIn: Seizure, Jg. 56, 2018, S. 115 – 120DOI (Open Access)
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Ketogenic diets in the treatment of epilepsyIn: Current Pharmaceutical Design, Jg. 23, 2017, Nr. 37, S. 5691 – 5701
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Ketogenic diet guidelines for infants with refractory epilepsyIn: European Journal of Paediatric Neurology, Jg. 20, 2016, Nr. 6, S. 798 – 809DOI, Online Volltext (Open Access)
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Paroxysmal Nonepileptic Events in Glut1 DeficiencyIn: Movement Disorders Clinical Practice, Jg. 3, 2016, Nr. 6, S. 607 – 610DOI (Open Access)
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Severe Hypertriglyceridemia in Glut1D on Ketogenic DietIn: Neuropediatrics, Jg. 47, 2016, Nr. 2, S. 132 – 136
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Glut1 deficiency syndrome and novel ketogenic dietsIn: Journal of Child Neurology, Jg. 28, 2013, Nr. 8, S. 1045 – 1048
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Ketogene Diät bei refraktärer Epilepsie im KindesalterIn: Monatsschrift Kinderheilkunde, Jg. 159, 2011, Nr. 8, S. 739 – 744
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Glucose transporter-1 deficiency syndrome : the expanding clinical and genetic spectrum of a treatable disorderIn: Brain: A Journal of Neurology, Jg. 133, 2010, Nr. 3, S. 655 – 670DOI (Open Access)
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Expect the unexpected : favourable outcome in Munchausen by proxy syndromeIn: European Journal of Pediatrics volume, Jg. 167, 2008, Nr. 9, S. 1085 – 1088
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Clinical and molecular phenotype of Aicardi-Goutieres syndromeIn: The American Journal of Human Genetics (AJHG), Jg. 81, 2007, Nr. 4, S. 713 – 725DOI (Open Access)
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Exhaled nitric oxide in children after accidental exposure to chlorine gasIn: Inhalation Toxicology, Jg. 19, 2007, Nr. 10, S. 895 – 898
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GLUT1 deficiency syndrome - 2007 updateIn: Developmental Medicine & Child Neurology, Jg. 49, 2007, Nr. 9, S. 707 – 716
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Die ketogene Ernährung - Rolle der KinderkrankenschwesterIn: Kinderkrankenschwester, Jg. 25, 2006, Nr. 12, S. 514 – 517
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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionIn: Nature Genetics, Jg. 38, 2006, Nr. 8, S. 910 – 916
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Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusIn: Nature Genetics, Jg. 38, 2006, Nr. 8, S. 917 – 920
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Novel nuclear encoded autosomal recessive mitochondriopathyIn: Neuromuscular disorders, Jg. 16, 2006, Nr. 9-10, S. 660
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Bench meets bedside : a 10-year-old girl and amino acid residue glycine 75 of the facilitative glucose transporter GLUT1In: Biochemistry, Jg. 44, 2005, Nr. 38, S. 12621 – 12626
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Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in JapanIn: Brain and Development, Jg. 27, 2005, Nr. 4, S. 311 – 317
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Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome : a 2- to 5-year follow-up of 15 children enrolled prospectivelyIn: Neuropediatrics, Jg. 36, 2005, Nr. 5, S. 302 – 308
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Die ketogene Diät in den deutschsprachigen Ländern im Jahr 2003 : eine StandortbestimmungIn: Klinische Pädiatrie, Jg. 216, 2004, Nr. 5, S. 277 – 285
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Effects of the ketogenic diet in the glucose transporter 1 deficiency syndromeIn: Prostaglandins, Leukotrienes and Essential Fatty Acids, Jg. 70, 2004, Nr. 3, S. 321 – 327
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Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)In: Neurology, Jg. 63, 2004, Nr. 11, S. 2165 – 2167
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Impaired glucose transport into the brain : the expanding spectrum of glucose transporter type 1 deficiency syndromeIn: Current Opinion in Neurology, Jg. 17, 2004, Nr. 2, S. 193 – 196
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Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitroIn: European Journal of Pediatrics, Jg. 162, 2003, Nr. 2, S. 84 – 89
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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyIn: The American Journal of Human Genetics, Jg. 73, 2003, Nr. 5, S. 1106 – 1119DOI (Open Access)
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Neuroglycopenia in normoglycaemic patients, and the potential benefit of ketosisIn: Diabetic medicine, Jg. 20, 2003, Nr. 6, S. 481 – 482
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Progressive dystonia in a 12-year-old boyIn: European Journal of Paediatric Neurology, Jg. 7, 2003, Nr. 2, S. 85 – 88
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Reversible infantile hypoglycorrhachia : possible transient disturbance in glucose transport?In: Pediatric Neurology, Jg. 29, 2003, Nr. 4, S. 321 – 325
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Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome : impaired glucose transport into brain-- a reviewIn: European Journal of Pediatrics, Jg. 161, 2002, Nr. 6, S. 295 – 304
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Introduction of a ketogenic diet in young infantsIn: Journal of Inherited Metabolic Disease (JIMD), Jg. 25, 2002, Nr. 6, S. 449 – 460
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Repeated detection of gas in the portal vein after liver transplantation : A sign of EBV-associated post-transplant lymphoproliferation?In: Pediatric Transplantation, Jg. 6, 2002, Nr. 4, S. 332 – 336
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Novel nuclear encoded autosomal recessive mitochondriopathyIn: Neuromuscular Disorders, Jg. 16, 2006, Nr. 9-10, S. 660 – 660