Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Kingma SDK"'
Publikováno v:
Tijdschrift Voor Kindergeneeskunde; Feb2013 Supplement, Vol. 81, p65-65, 1p
Autor:
Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, University Medical Center Freiburg, Faculty of Medicine, Freiburg, Germany., Gautschi M; Inselspital, University Hospital Bern, Department of Paediatrics, Division of Paediatric Endocrinology, Diabetology and Metabolism, Freiburgstrasse, 3010 Bern, Switzerland; Inselspital, University Hospital Bern, Institute of Clinical Chemistry, Freiburgstrasse, 3010 Bern, Switzerland., Baker J; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, United States of America; Northwestern University School of Medicine, 225 East Chicago Ave, Box 59, Chicago, IL 60611-2991;, United States of America., Boyer M; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, United States of America., Burlina A; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, 35129 Padova, Italy., Casswall T; Paediatric Gastroenterology, Hepatology, and Nutrition, Karolinska University Hospital, and CLINTEC, Karolinska Institutet, Stockholm, Sweden., Corpeleijn W; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Gastroenterology, Endocrinology & Metabolism, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Çıki K; Kısmet Çıki, Van Research and State Hospital, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Van, Turkey., Cotter M; Dept of Haematology, Childrens Health Ireland, Temple st, Dublin, and School of Medicine, University College Dublin, Ireland., Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple st, Dublin, and School of Medicine, University College Dublin, Ireland., Derks TGJ; Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Haas D; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Kilavuz S; Marmara University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, İstanbul, Turkey., Kingma SDK; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Antwerp, Belgium., Korman SH; Wolf Children's Hospital, Shaare Zedek Medical Center, Jerusalem, Israel., Kozek A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, 225 East Chicago Ave, Box 59, Chicago, IL 60611-2991, United States of America., de Laet C; Nutrition and Metabolic Clinic, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Bruxelles, Belgium., Mundy H; Evelina London Children's Hospital, London, UK., Nassogne MC; Division of Pediatric neurology, Department of Pediatrics Cliniques Universitaires Saint-Luc (CUSL), UCLouvain, Bruxelles, Belgium., Quintero V; Paediatric Heamatology Oncology Deparment, Hospital Universitario La Paz, Madrid, Spain., Rossi A; Department of Translational Medicine, Section of Pediatrics, University of Naples 'Federico II', Naples, Italy., Spenger J; University Children's Hospital Salzburg, Salzburger Landeskliniken und Paracelsus Medical University, Salzburg, Austria., Spiegel R; Pediatric Department B, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel., Stephenne X; Division of Paediatric Gastroenterology and Hepatology, Department of Paediatrics, Cliniques Universitaires Saint-Luc, UC Louvain, Brussels, Belgium., Stojkov D; Inselspital, University Hospital Bern, Institute of Pharmacology, Freiburgstrasse, 3010 Bern, Switzerland., Tal G; Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Veiga-da Cunha M; Metabolic Research Group, de Duve Institute and UCLouvain, Brussels, Belgium., Wortmann SB; University Children's Hospital Salzburg, Salzburger Landeskliniken und Paracelsus Medical University, Salzburg, Austria; Amalia Children's Hospital, Radboudumc, Nijmegen, the Netherlands. Electronic address: s.wortmann@salk.at.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108486. Date of Electronic Publication: 2024 Apr 27.
Autor:
Panis B; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands., Vos EN; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands., Barić I; Department of Pediatrics, University Hospital Center Zagreb, Croatia, and School of Medicine, University of Zagreb, Zagreb, Croatia., Bosch AM; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Pediatrics, Division of Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, Netherlands., Brouwers MCGJ; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Centre, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, Netherlands., Burlina A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, Padova, Italy., Cassiman D; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Faculty of Medicine, KU Leuven, Leuven, Belgium., Coman DJ; Queensland Children's Hospital, Children's Health Queensland, Brisbane, QLD, Australia., Couce ML; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Pediatrics, Diagnosis and Treatment Unit of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, CIBERER, RICORS Instituto Salud Carlos III, Santiago de Compostela, Spain., Das AM; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics, Pediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany., Demirbas D; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States., Empain A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics, Metabolic and Nutrition Unit, Division of Endocrinology, Diabetes and Metabolism, University Hospital for Children Queen Fabiola, Bruxelles, Belgium., Gautschi M; Department of Paediatrics, Institute of Clinical Chemistry, Inselspital, Bern University Hospital, Swiss Reference Centre for Inborn Errors of Metabolism, Site Bern, Division of Pediatric Endocrinology, Diabetes and Metabolism, University of Bern, Bern, Switzerland., Grafakou O; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; IEM Clinic, Arch Makarios III Hospital, Nicosia, Cyprus., Grunewald S; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, United Kingdom., Kingma SDK; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Antwerp, Belgium., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, University College Dublin, Dublin, Ireland., Leão-Teles E; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário São João, Porto, Portugal., Möslinger D; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery (NHNN), London, United Kingdom., Õunap K; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Genetics and Personalized Medicine Clinic, Faculty of Medicine, Tartu University Hospital, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Pané A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Endocrinology and Nutrition Department, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de la Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Paci S; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Inborn Errors of Metabolism, Clinical Department of Pediatrics, San Paolo Hospital - ASST Santi Paolo e Carlo, University of Milan, Milan, Italy., Parini R; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Rare Diseases Unit, Department of Internal Medicine, San Gerardo Hospital IRCCS, Monza, Italy., Rivera IA; iMed.ULisboa-Instituto de Investigação do Medicamento, Faculdade de Farmácia, Universidade de Lisboa, Lisboa, Portugal., Scholl-Bürgi S; 29 Department of Child and Adolescent Health, Division of Pediatrics I-Inherited Metabolic Disorders, Medical University Innsbruck, Innsbruck, Austria., Schwartz IVD; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Sdogou T; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Newborn Screening Department, Institute of Child Health, Athens, Greece., Shakerdi LA; Adult Metabolics/Genetics, National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin, Ireland., Skouma A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Newborn Screening Department, Institute of Child Health, Athens, Greece., Stepien KM; Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, Salford, United Kingdom., Treacy EP; School of Medicine, Trinity College Dublin, National Rare Diseases Office, Mater Misericordiae University Hospital, Dublin, Ireland., Waisbren S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States., Berry GT; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States., Rubio-Gozalbo ME; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.
Publikováno v:
Frontiers in genetics [Front Genet] 2024 Feb 15; Vol. 15, pp. 1355962. Date of Electronic Publication: 2024 Feb 15 (Print Publication: 2024).
Autor:
Quelhas D; Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal.; Centro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Santo António, Porto, Portugal., Kingma SDK; Mosakids Children's Hospital, Maastricht University Medical Center, Maastricht, the Netherlands.; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Antwerp, Belgium., Jonckheere AI; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Antwerp, Belgium., Smeets-Peels CS; Stichting Pergamijn, Sittard, the Netherlands., Gomes DC; Centro de Referȇncia de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal., Duro J; Centro de Referȇncia de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal., Oliveira A; Centro de Referȇncia de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal., Matthijs G; Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium., Steinbusch LKM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Jaeken J; Department of Development and Regeneration, Woman and Child Unit, Center for Metabolic Diseases, KU Leuven, Leuven, Belgium., Rivera I; Research Institute for Medicines (iMed.ULisboa), Department of Pharmaceutical Sciences and Medicines, Faculty of Pharmacy, Universidade de Lisboa, Lisbon, Portugal., Rubio-Gozalbo E; Mosakids Children's Hospital, Maastricht University Medical Center, Maastricht, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Jan 23; Vol. 38, pp. 101057. Date of Electronic Publication: 2024 Jan 23 (Print Publication: 2024).
Autor:
Kingma SDK; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, Antwerp, 2650, Belgium.; Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.; Faculty of medicine and health sciences, University of Antwerp, Antwerp, Belgium., Neven J; Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium., Bael A; Faculty of medicine and health sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Nephrology, ZNA Queen Paola Children's Hospital, Lindendreef 1, Antwerp, 2020, Belgium., Meuwissen MEC; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium., van den Akker M; Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium. machiel.vandenakker@uza.be.; Faculty of medicine and health sciences, University of Antwerp, Antwerp, Belgium. machiel.vandenakker@uza.be.; Department of Pediatrics, ZNA Queen Paola Children's Hospital, Lindendreef 1, Antwerp, 2020, Belgium. machiel.vandenakker@uza.be.; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, Antwerp, 2650, Belgium. machiel.vandenakker@uza.be.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 14; Vol. 18 (1), pp. 291. Date of Electronic Publication: 2023 Sep 14.
Autor:
Jonckheere AI; Department of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Belgium. Electronic address: An.jonckheere@uza.be., Kingma SDK; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Belgium., Eyskens F; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Belgium., Bordon V; Department of Child Oncology, Ghent University Hospital, Ghent, Belgium., Jansen AC; Department of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2023 Sep; Vol. 46, pp. 1-7. Date of Electronic Publication: 2023 Jun 19.
Autor:
Kingma SDK; Department of Pediatric Neurology, University of Antwerp, Antwerp University Hospital, Edegem, Antwerp, Belgium., Ceulemans B; Department of Pediatric Neurology, University of Antwerp, Antwerp University Hospital, Edegem, Antwerp, Belgium.
Publikováno v:
Neuropediatrics [Neuropediatrics] 2022 Jun; Vol. 53 (3), pp. 151-158. Date of Electronic Publication: 2022 Jan 06.
Autor:
Kingma SDK; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Antwerp, Belgium., Jonckheere AI; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Antwerp, Belgium.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Nov; Vol. 44 (6), pp. 1289-1310. Date of Electronic Publication: 2021 Sep 15.
Autor:
Kingma SDK; Centre for Metabolic Diseases University Hospital Antwerp, University of Antwerp Edegem, Antwerp Belgium.; Department of Pediatric Neurology Antwerp University Hospital, University of Antwerp Edegem, Antwerp Belgium., Ceulemans B; Department of Pediatric Neurology Antwerp University Hospital, University of Antwerp Edegem, Antwerp Belgium., Kenis S; Department of Pediatric Neurology Antwerp University Hospital, University of Antwerp Edegem, Antwerp Belgium., Jonckheere AI; Centre for Metabolic Diseases University Hospital Antwerp, University of Antwerp Edegem, Antwerp Belgium.; Department of Pediatric Neurology Antwerp University Hospital, University of Antwerp Edegem, Antwerp Belgium.
Publikováno v:
JIMD reports [JIMD Rep] 2021 Mar 18; Vol. 59 (1), pp. 90-103. Date of Electronic Publication: 2021 Mar 18 (Print Publication: 2021).
Autor:
Kingma SDK; Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands; Department of Pediatrics and Amsterdam Lysosome Centre 'Sphinx', Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. Electronic address: s.d.kingma@amc.uva.nl., Wagemans T; Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands; Department of Pediatrics and Amsterdam Lysosome Centre 'Sphinx', Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. Electronic address: a.h.wagemans@amc.uva.nl., IJlst L; Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. Electronic address: l.ijlst@amc.uva.nl., Bronckers ALJJ; Department of Oral Cell Biology ACTA, University of Amsterdam and VU University Amsterdam, Research Institute MOVE, Gustav Mahlerlaan 3004, 1081, LA, Amsterdam, The Netherlands. Electronic address: a.bronckers@acta.nl., van Kuppevelt TH; Toin H. van Kuppevelt: Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Postbus 9101, 6500, HB, Nijmegen, The Netherlands. Electronic address: Toin.vanKuppevelt@Radboudumc.nl., Everts V; Department of Oral Cell Biology ACTA, University of Amsterdam and VU University Amsterdam, Research Institute MOVE, Gustav Mahlerlaan 3004, 1081, LA, Amsterdam, The Netherlands. Electronic address: v.everts@acta.nl., Wijburg FA; Department of Pediatrics and Amsterdam Lysosome Centre 'Sphinx', Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. Electronic address: f.a.wijburg@amc.uva.nl., van Vlies N; Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands; Department of Pediatrics and Amsterdam Lysosome Centre 'Sphinx', Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. Electronic address: n.vanvlies@amc.uva.nl.
Publikováno v:
Bone [Bone] 2016 Jul; Vol. 88, pp. 92-100. Date of Electronic Publication: 2016 Apr 19.