Zobrazeno 1 - 10
of 5 104
pro vyhledávání: '"Carbohydrate Metabolism, Inborn Errors"'
Autor:
Mastrangelo M; Woman/Child Health and Urological Sciences Department, Sapienza University of Rome, Via dei Sabelli 108, 00185, Rome, Italy. mario.mastrangelo@uniroma1.it.; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy. mario.mastrangelo@uniroma1.it., Manti F; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Ricciardi G; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Cinnante EMC; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Cameli N; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Beatrice A; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Tolve M; Clinical Pathology Unit, Azienda Ospedaliero-Universitaria Policlinico Umberto I, Rome, Italy., Pisani F; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Publikováno v:
European journal of pediatrics [Eur J Pediatr] 2024 Sep; Vol. 183 (9), pp. 3665-3678. Date of Electronic Publication: 2024 Jul 02.
Autor:
Olivotto S; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Freddi A; University of Milan, Milan, Italy., Previtali R; University of Milan, Milan, Italy; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Mauri A; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy; Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milan, Italy., Cereda C; Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milan, Italy., De Amicis R; International Center for the Assessment of Nutritional Status and the Development of Dietary Intervention Strategies (ICANS-DIS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy; IRCCS Istituto Auxologico Italiano, Obesity Unit and Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, Milan, Italy., Bertoli S; International Center for the Assessment of Nutritional Status and the Development of Dietary Intervention Strategies (ICANS-DIS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy; IRCCS Istituto Auxologico Italiano, Obesity Unit and Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, Milan, Italy., Doneda C; Pediatric Radiology and Neuroradiology Unit, Buzzi Children's Hospital, Milan, Italy., Veggiotti P; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy. Electronic address: pierangelo.veggiotti@unimi.it.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2024 Aug; Vol. 157, pp. 118-126. Date of Electronic Publication: 2024 Jun 04.
Autor:
Xu W; School of Biomedical Sciences, University of Queensland, St Lucia, Queensland, Australia., Borges K; School of Biomedical Sciences, University of Queensland, St Lucia, Queensland, Australia.
Publikováno v:
Epilepsia [Epilepsia] 2024 Aug; Vol. 65 (8), pp. 2213-2226. Date of Electronic Publication: 2024 May 20.
Autor:
Corradini M; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Zanaboni MP; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Varesio C; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. Electronic address: costanza.varesio@mondino.it., Celario M; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Capelli E; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Giudice C; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Headache Science and Neurorehabilitation Center, IRCCS Mondino Foundation, Pavia, Italy., Quaranta CA; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Mensi MM; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Pasca L; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., De Giorgis V; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Jul; Vol. 51, pp. 62-70. Date of Electronic Publication: 2024 May 29.
Autor:
Dale HF; Unger-Vetlesen Institute, Lovisenberg Diaconal Hospital, Oslo, Norway.; Department of Clinical Support, Lovisenberg Diaconal Hospital, Oslo, Norway., Hagen M; Faculty of Health Science, Oslo Metropolitan University, Oslo, Norway.; Department of Research, Lovisenberg Diaconal Hospital, Oslo, Norway., Deb C; Gastroenterology Translational Research Division, Arnold Palmer Hospital, Specialty Diagnostic Laboratory, Orlando, USA., Skar V; Unger-Vetlesen Institute, Lovisenberg Diaconal Hospital, Oslo, Norway., Valeur J; Unger-Vetlesen Institute, Lovisenberg Diaconal Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Publikováno v:
Scandinavian journal of clinical and laboratory investigation [Scand J Clin Lab Invest] 2024 Jul; Vol. 84 (4), pp. 268-272. Date of Electronic Publication: 2024 Jul 10.
Autor:
Cameron T; Royal Aberdeen Children's Hospital, NHS Grampian, Aberdeen, Scotland, UK.; School of Health Sciences, Robert Gordon University, Aberdeen, Scotland, UK., Allan K; School of Health Sciences, Robert Gordon University, Aberdeen, Scotland, UK., Kay Cooper; School of Health Sciences, Robert Gordon University, Aberdeen, Scotland, UK.; Scottish Centre for Evidence-based, Multi-professional Practice: A JBI Centre of Excellence, Aberdeen, Scotland, UK.
Publikováno v:
Journal of human nutrition and dietetics : the official journal of the British Dietetic Association [J Hum Nutr Diet] 2024 Aug; Vol. 37 (4), pp. 827-846. Date of Electronic Publication: 2024 Jun 04.
Autor:
Giugno A; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Græcia, Catanzaro, Italy., Falcone E; BIOGENET-Medical and Forensic Genetics Laboratory, Cosenza, Italy., Fortunato F; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Græcia, Catanzaro, Italy., Sammarra I; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Græcia, Catanzaro, Italy., Procopio R; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy., Gagliardi M; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy., Bauleo A; BIOGENET-Medical and Forensic Genetics Laboratory, Cosenza, Italy., de Stefano L; BIOGENET-Medical and Forensic Genetics Laboratory, Cosenza, Italy., Martino I; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Græcia, Catanzaro, Italy., Gambardella A; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Græcia, Catanzaro, Italy.; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 Aug; Vol. 31 (8), pp. e16325. Date of Electronic Publication: 2024 May 27.
Autor:
De Giorgis V; Department of Child Neurology and Psychiatry, Mondino Foundation, Pavia, Italy., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom., Boespflug-Tanguy O; Service de Neurologie Pédiatrique, Centre de Référence Leucodystrophies et Leucoencephalopathies de Cause Rare (LEUKOFRANCE), APHP Robert-Debré, Paris, France., Gras D; Service de Neurologie Pédiatrique, Centre de Référence Leucodystrophies et Leucoencephalopathies de Cause Rare (LEUKOFRANCE), APHP Robert-Debré, Paris, France., Marina AD; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Desurkar A; Neurology Department, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom., Toledo M; Epilepsy Unit, Neurology Department, Hospital Vall d'Hebron, Barcelona, Spain., Miller I; Department of Neurology and Comprehensive Epilepsy Program, Brain Institute, Miami Children's Hospital, Miami, Florida, USA., Rotstein M; Pediatric Movement Disorders Service, The Pediatric Neurology Unite and Child Development Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Schneider SA; Department of Neurology, Ludwig-Maximilians-University of München, Munich, Germany., Tarquinio DC; Center for Rare Neurological Diseases, Norcross, Georgia, USA., Weber Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Section of Epileptology, Department of Neurology, University Hospital RWTH Aachen, Aachen, Germany., Brandabur M; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Mayhew J; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Koutsoukos T; Ultragenyx Pharmaceutical Inc., Novato, California, USA., De Vivo DC; Department of Neurology and Pediatrics, Columbia University, New York, New York, USA.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Aug; Vol. 39 (8), pp. 1386-1396. Date of Electronic Publication: 2024 May 09.
Autor:
Barut D; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey., Kıran Taşcı E; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey., Kunay B; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey., Güven B; Department of Pediatric Gastroenterology Hepatology and Nutrition, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Aksoy B; Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Izmir Katip Çelebi University, İzmir, Turkey., Çağan Appak Y; Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Izmir Katip Çelebi University, İzmir, Turkey., Karakoyun M; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey., Çetin F; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey., Selimoğlu A; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School, Memorial Ataşehir/Bahçelievler Hospital, İstanbul, Turkey., Onay H; Department of Medical Genetics, Ege University Hospital, Izmir, Turkey., Aydoğdu S; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey.
Publikováno v:
Scandinavian journal of gastroenterology [Scand J Gastroenterol] 2024 Jun; Vol. 59 (6), pp. 647-651. Date of Electronic Publication: 2024 Mar 08.
Autor:
Falsaperla R; Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico 'Rodolico-San Marco,' San Marco Hospital, University of Catania, Catania, Italy. raffaelefalsaperla@hotmail.com.; Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco,' San Marco Hospital, Catania, Italy. raffaelefalsaperla@hotmail.com., Sortino V; Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco,' San Marco Hospital, Catania, Italy., Vitaliti G; Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico, 'Rodolico-San Marco,' San Marco Hospital, Catania, Italy., Privitera GF; Unit of Math and Comp Science, Department of Clinical and Experimental Medicine, Catania, Italy., Ruggieri M; Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, AOU 'Policlinico,' PO 'G. Rodolico', Via S. Sofia, 78, 95124, Catania, Italy., Fusto G; Department of Biomedical and Biotechnological Sciences (BIOMETEC), University of Catania, Catania, Italy., Pappalardo XG; Department of Biomedical and Biotechnological Sciences (BIOMETEC), University of Catania, Catania, Italy.; National Council of Research, Institute for Research and Biomedical Innovation (IRIB), Unit of Catania, Catania, Italy.
Publikováno v:
Neurogenetics [Neurogenetics] 2024 Apr; Vol. 25 (2), pp. 69-78. Date of Electronic Publication: 2024 Jan 08.