Personensuche
Personensuche
Es wurde 1 Person gefunden.
Funktionen
-
, Klinik für Allgemeine Pädiatrie mit Schwerpunkt Neuropädiatrie
Aktuelle Veranstaltungen
Keine aktuellen Veranstaltungen.
Vergangene Veranstaltungen (max. 10)
Keine vergangenen Veranstaltungen.
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.
-
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 - 365Online Volltext: dx.doi.org/ (Open Access)
-
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 - 2251Online Volltext: dx.doi.org/ (Open Access)
-
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes : A randomized controlled trialIn: Seizure Jg. 56 (2018) S. 115 - 120Online Volltext: dx.doi.org/ (Open Access)
-
Ketogenic diets in the treatment of epilepsyIn: Current Pharmaceutical Design Jg. 23 (2017) Nr. 37, S. 5691 - 5701Online Volltext: dx.doi.org/
-
Ketogenic diet guidelines for infants with refractory epilepsyIn: European Journal of Paediatric Neurology Jg. 20 (2016) Nr. 6, S. 798 - 809Online Volltext: dx.doi.org/ Online Volltext (Open Access)
-
Paroxysmal Nonepileptic Events in Glut1 DeficiencyIn: Movement Disorders Clinical Practice Jg. 3 (2016) Nr. 6, S. 607 - 610Online Volltext: dx.doi.org/ (Open Access)
-
Severe Hypertriglyceridemia in Glut1D on Ketogenic DietIn: Neuropediatrics Jg. 47 (2016) Nr. 2, S. 132 - 136Online Volltext: dx.doi.org/
-
Glut1 deficiency syndrome and novel ketogenic dietsIn: Journal of Child Neurology Jg. 28 (2013) Nr. 8, S. 1045 - 1048Online Volltext: dx.doi.org/
-
Ketogene Diät bei refraktärer Epilepsie im KindesalterIn: Monatsschrift Kinderheilkunde Jg. 159 (2011) Nr. 8, S. 739 - 744Online Volltext: dx.doi.org/
-
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 - 670Online Volltext: dx.doi.org/ (Open Access)
-
Expect the unexpected : favourable outcome in Munchausen by proxy syndromeIn: European Journal of Pediatrics volume Jg. 167 (2008) Nr. 9, S. 1085 - 1088Online Volltext: dx.doi.org/
-
Clinical and molecular phenotype of Aicardi-Goutieres syndromeIn: The American Journal of Human Genetics (AJHG) Jg. 81 (2007) Nr. 4, S. 713 - 725Online Volltext: dx.doi.org/ (Open Access)
-
Exhaled nitric oxide in children after accidental exposure to chlorine gasIn: Inhalation Toxicology Jg. 19 (2007) Nr. 10, S. 895 - 898Online Volltext: dx.doi.org/
-
GLUT1 deficiency syndrome - 2007 updateIn: Developmental Medicine & Child Neurology Jg. 49 (2007) Nr. 9, S. 707 - 716Online Volltext: dx.doi.org/
-
Die ketogene Ernährung - Rolle der KinderkrankenschwesterIn: Kinderkrankenschwester Jg. 25 (2006) Nr. 12, S. 514 - 517
-
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 - 916Online Volltext: dx.doi.org/
-
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 - 920Online Volltext: dx.doi.org/
-
Novel nuclear encoded autosomal recessive mitochondriopathyIn: Neuromuscular disorders Jg. 16 (2006) Nr. 9-10, S. 660Online Volltext: dx.doi.org/
-
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 - 12626Online Volltext: dx.doi.org/
-
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 - 317Online Volltext: dx.doi.org/
-
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 - 308Online Volltext: dx.doi.org/
-
Die ketogene Diät in den deutschsprachigen Ländern im Jahr 2003 : eine StandortbestimmungIn: Klinische Pädiatrie Jg. 216 (2004) Nr. 5, S. 277 - 285Online Volltext: dx.doi.org/
-
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 - 327Online Volltext: dx.doi.org/
-
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)In: Neurology Jg. 63 (2004) Nr. 11, S. 2165 - 2167Online Volltext: dx.doi.org/
-
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 - 196Online Volltext: dx.doi.org/
-
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 - 89Online Volltext: dx.doi.org/
-
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 - 1119Online Volltext: dx.doi.org/ (Open Access)
-
Neuroglycopenia in normoglycaemic patients, and the potential benefit of ketosisIn: Diabetic medicine Jg. 20 (2003) Nr. 6, S. 481 - 482Online Volltext: dx.doi.org/
-
Progressive dystonia in a 12-year-old boyIn: European Journal of Paediatric Neurology Jg. 7 (2003) Nr. 2, S. 85 - 88Online Volltext: dx.doi.org/
-
Reversible infantile hypoglycorrhachia : possible transient disturbance in glucose transport?In: Pediatric Neurology Jg. 29 (2003) Nr. 4, S. 321 - 325Online Volltext: dx.doi.org/
-
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 - 304Online Volltext: dx.doi.org/
-
Introduction of a ketogenic diet in young infantsIn: Journal of Inherited Metabolic Disease (JIMD) Jg. 25 (2002) Nr. 6, S. 449 - 460Online Volltext: dx.doi.org/
-
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 - 336Online Volltext: dx.doi.org/
-
Novel nuclear encoded autosomal recessive mitochondriopathyIn: Neuromuscular Disorders Jg. 16 (2006) Nr. 9-10, S. 660 - 660