Zobrazeno 1 - 10
of 906
pro vyhledávání: '"Van Karnebeek CDM"'
Autor:
van Karnebeek CDM; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastro-Enterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands. c.d.vankarnebeek@amsterdamumc.nl., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, USA., Baynam G; Aix Marseille Univ, INSERM, Marseille Medical Genetics, MMG, Marseille, France., Baudot A; Aix Marseille Univ, INSERM, Marseille Medical Genetics, MMG, Marseille, France., Groza T; Rare Care Centre, Perth Children's Hospital and Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.; European Molecular Biology Laboratory (EMBL-EBI), European Bioinformatics Institute, Hinxton, UK., Jans JJM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, The Netherlands., Lassmann T; Telethon Kids Institute, Nedlands, Australia., Letinturier MCV; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (INSERM), Paris, France., Montgomery SB; Stanford University School of Medicine, Stanford, USA., Robinson PN; The Jackson Laboratory, Farmington, CT, USA., Sansen S; Sanofi, Diegem, Belgium., Mehrian-Shai R; Pediatric Brain Cancer Molecular Lab, Sheba Medical Center, Ramat Gan, Israel., Steward C; Genomics England, London, UK., Kosaki K; Keio University, Minato, Japan., Durao P; The Cure and Action for Tay-Sachs (CATS) Foundation, Altringham, UK., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences, London, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Canada.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 27; Vol. 19 (1), pp. 357. Date of Electronic Publication: 2024 Sep 27.
Autor:
Müller AR; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands., Boot E; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands.; The Dalglish Family 22Q Clinic, Toronto, ON, Canada.; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands., Notermans SB; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Schuengel C; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Section of Clinical Child and Family Studies, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Henneman L; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Cornel MC; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., van Haelst MM; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Alders M; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Bijl B; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands., Wijburg FA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., van Eeghen AM; Emma Center for Personalized Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; Advisium, 'S Heeren Loo, Amersfoort, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. a.m.vaneeghen@amsterdamumc.nl.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 16; Vol. 19 (1), pp. 346. Date of Electronic Publication: 2024 Sep 16.
Autor:
Schuurmans IME; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands., van Karnebeek CDM; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands; United for Metabolic Diseases, Amsterdam, the Netherlands., Hoogendoorn ADM; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands., Ribes A; Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona, IDIBAPS-CIBERER, Barcelona, Spain., Nadif Kasri N; Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Garanto A; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands. Electronic address: alex.garanto@radboudumc.nl.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103481. Date of Electronic Publication: 2024 Jun 19.
Autor:
Schuurmans IME; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, The Netherlands; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands., van Karnebeek CDM; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands., Hoogendoorn ADM; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, The Netherlands., Nadif Kasri N; Radboud university medical center, Department of Human Genetics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands., Garanto A; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, The Netherlands; Radboud university medical center, Department of Human Genetics, Nijmegen, The Netherlands. Electronic address: alex.garanto@radboudumc.nl.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103480. Date of Electronic Publication: 2024 Jun 19.
Autor:
Adams DR; National Human Genome Research Institute, National Institutes of Health, USA. Electronic address: david.adams@nih.gov., van Karnebeek CDM; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastro-enterology Endocrinology Metabolism, Amsterdam University Medical Centers, the Netherlands., Agulló SB; Centre Nacional d'Anàlisi Genòmica (CNAG), Spain; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Spain., Faùndes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Chile., Jamuar SS; Genetics Service, KK Women's and Children's Hospital and Paediatrics ACP, Duke-NUS Medical School, Singapore; Singhealth Duke-NUS Institute of Precision Medicine, Singapore., Lynch SA; Children's Health Ireland, Ireland., Pintos-Morell G; Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital, Spain; MPS-Spain Patient Advocacy Organization, Spain., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, India., Shai R; Pediatric Cancer Molecular Lab, Sheba Medical Center, Israel., Steward CA; Genomics England, United Kingdom., Tumiene B; Vilnius University, Faculty of Medicine, Institute of Biomedical Sciences, Lithuania., Verloes A; Département de Génétique, CHU Paris - Hôpital Robert Debré, France.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Aug; Vol. 70, pp. 104951. Date of Electronic Publication: 2024 Jun 06.
Autor:
Fuchs C; EURORDIS - RARE Disease Europe, Paris, France., 't Hoen PAC; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Müller AR; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands.; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, Netherlands.; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands., Ehrhart F; Department of Bioinformatics - BiGCaT, Research Institute of Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University, Maastricht, Netherlands., Van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands.; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, Netherlands.; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands.
Publikováno v:
Frontiers in medicine [Front Med (Lausanne)] 2024 Jul 29; Vol. 11, pp. 1425038. Date of Electronic Publication: 2024 Jul 29 (Print Publication: 2024).
Autor:
Hayward B; Section On Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, 20892, USA., Kumari D; Section On Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, 20892, USA., Santra S; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B15 2TG, UK., van Karnebeek CDM; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam Gastro-Enterology Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., van Kuilenburg ABP; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Usdin K; Section On Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, 20892, USA. karenu@nih.gov.
Publikováno v:
Scientific reports [Sci Rep] 2024 Jun 14; Vol. 14 (1), pp. 13772. Date of Electronic Publication: 2024 Jun 14.
Autor:
van Karnebeek CDM; Amsterdam UMC location University of Amsterdam, Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam, The Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; United for Metabolic Diseases, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Tarailo-Graovac M; Departments of Medical Genetics and Biochemistry & Molecular Biology, Alberta Children's Hospital Research Institute (ACHRI), Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Leen R; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Meinsma R; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Correard S; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Jansen-Meijer J; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Prykhozhij SV; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada., Pena IA; The Picower Institute for Learning and Memory, Massachusetts Institute of Technology-MIT, Boston, MA., Ban K; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada., Schock S; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada., Saxena V; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Pras-Raves ML; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Drögemöller BI; Rady Faculty of Health Sciences, Department of Biochemistry and Medical Genetics, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, Manitoba, Canada., Grootemaat AE; Amsterdam UMC Location University of Amsterdam, Department of Medical Biology, Amsterdam, The Netherlands., van der Wel NN; Amsterdam UMC Location University of Amsterdam, Department of Medical Biology, Amsterdam, The Netherlands., Dobritzsch D; Uppsala University, Department of Chemistry, Biomedical Center, Uppsala, Sweden., Roseboom W; Swammerdam Institute for Life Sciences, University of Amsterdam, Laboratory for Mass Spectrometry of Biomolecules, Amsterdam, The Netherlands., Schomakers BV; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Jaspers YRJ; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Zoetekouw L; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Roelofsen J; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., van der Lee R; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Ross CJ; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Kochan J; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Department of Cell Biochemistry, Kraków, Poland., McIntyre RL; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., van Klinken JB; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., van Weeghel M; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Kramer G; Swammerdam Institute for Life Sciences, University of Amsterdam, Laboratory for Mass Spectrometry of Biomolecules, Amsterdam, The Netherlands., Weschke B; Department of Neuropediatrics, Charité University Medicine Berlin, Berlin, Germany., Labrune P; APHP-Université Paris-Saclay, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pédiatrie, Clamart, and Paris-Saclay University, and INSERM U 1195, Clamart, France., Willemsen MA; Department of Pediatric Neurology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Riva D; Neurogenetic Syndromes and Autism Spectrum Disorders Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Garavaglia B; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Moeschler JB; Geisel School of Medicine, Dartmouth College and Departments of Pediatrics, Children's Hospital at Dartmouth, Lebanon, NH., Filiano JJ; Geisel School of Medicine, Dartmouth College and Departments of Pediatrics, Children's Hospital at Dartmouth, Lebanon, NH., Ekker M; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Berman JN; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada., Dyment D; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada., Vaz FM; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Wasserman WW; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Houtkooper RH; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., van Kuilenburg ABP; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands. Electronic address: a.b.vankuilenburg@amsterdamumc.nl.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101104. Date of Electronic Publication: 2024 Feb 24.
Autor:
den Hollander B; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Brands MM; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Nijhuis IJM; Wilhelmina Hospital Assen, Department of Pediatrics, Europaweg-Zuid 1, Assen, the Netherlands., Doude van Troostwijk LJAE; Wilhelmina Hospital Assen, Department of Pharmacy, Europaweg-Zuid 1, Assen, the Netherlands., van Essen P; Radboud University Medical Center, Department of Pediatrics, Amalia Children's Hospital, Geert Grooteplein Zuid 10, Nijmegen, the Netherlands., Hofsteenge GH; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam UMC location University of Amsterdam, Department of Nutrition & Dietetics, Meibergdreef 9, Amsterdam, the Netherlands., Koot BG; Amsterdam UMC location University of Amsterdam, Department of Paediatric Gastroenterology and Nutrition, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands., Müller AR; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, the Netherlands., Tseng LA; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, the Netherlands; University Medical Center Rotterdam, Department of Pediatrics, Sophia Children's Hospital, Dr. Molewaterplein 40, Rotterdam, the Netherlands., Stroes ESG; Amsterdam UMC location University of Amsterdam, Department of Vascular Medicine, Meibergdraaf 9, Amsterdam, the Netherlands., van de Ven PM; University Medical Centre Utrecht, Department of Data Science and Biostatistics, Julius Center for Health Sciences and Primary Care, Heidelberglaan 100, Utrecht, Netherlands., Wiegman A; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands., van Karnebeek CDM; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam UMC, Emma Center for Personalized Medicine, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands; Amsterdam UMC location University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development, Meibergdreef 9, Amsterdam, the Netherlands. Electronic address: c.d.vankarnebeek@amsterdamumc.nl.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108347. Date of Electronic Publication: 2024 Feb 13.
Autor:
Dixon M; Dietetics Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK., Millington C; Dietetics Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK., Bernstein L; Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA., Coughlin CR 2nd; Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA., Drumm M; Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA., Gaughan S; Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA., van Karnebeek CDM; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam Gastroenterology Endocrinology and Metabolism Amsterdam Univeristy Medical Center Amsterdam The Netherlands., van Wegberg AMJ; Department of Gastroenterology and Hepatology-Dietetics Radboud University Medical Center Nijmegen The Netherlands.
Publikováno v:
JIMD reports [JIMD Rep] 2024 Apr 03; Vol. 65 (3), pp. 188-203. Date of Electronic Publication: 2024 Apr 03 (Print Publication: 2024).