Zobrazeno 1 - 10
of 785
pro vyhledávání: '"Kluijtmans LAJ"'
Autor:
Engelke UFH; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Zammit A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gerritsen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Michels MAHM; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Coene KLM; Laboratory of Clinical Chemistry and Hematology, Maxima Medical Center, Veldhoven, The Netherlands., Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Kulkarni P; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. purva.kulkarni@radboudumc.nl.
Publikováno v:
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2025; Vol. 2855, pp. 555-571.
Publikováno v:
In BBA Clinical June 2014 1:30-32
Autor:
Veldman A; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Kiewiet MBG; Department of Genetics, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Brands MMG; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., de Coo RIFM; Department of Toxicogenomics, Unit Clinical Genomics, MHeNs School for Mental Health and Neuroscience, Maastricht University, 6229 ER Maastricht, The Netherlands., Derks TGJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Fuchs SA; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., van den Hout JMP; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Kluijtmans LAJ; Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Koop K; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., Lubout CMA; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Mulder MF; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Panis B; Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., de Sain-van der Velden MG; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Schaefers J; Department of Pediatrics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Schreuder AB; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., Visser G; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands.; Department of Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., Wevers RA; Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Wijburg FA; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands., van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9718 GZ Groningen, The Netherlands.
Publikováno v:
International journal of neonatal screening [Int J Neonatal Screen] 2023 Oct 11; Vol. 9 (4). Date of Electronic Publication: 2023 Oct 11.
Autor:
Bongaerts M; Department of Clinical Genetics, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands., Kulkarni P; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Zammit A; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Bonte R; Department of Clinical Genetics, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands., Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Blom HJ; Department of Clinical Genetics, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands., Engelke UFH; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Tax DMJ; Faculty of Electrical Engineering, Mathematics and Computer Science, TU Delft, Van Mourik Broekmanweg 6, 2628 XE Delft, The Netherlands., Ruijter GJG; Department of Clinical Genetics, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands., Reinders MJT; Faculty of Electrical Engineering, Mathematics and Computer Science, TU Delft, Van Mourik Broekmanweg 6, 2628 XE Delft, The Netherlands.
Publikováno v:
Metabolites [Metabolites] 2023 Jan 07; Vol. 13 (1). Date of Electronic Publication: 2023 Jan 07.
Autor:
Ferreira EA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands., Veenvliet ARJ; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Huigen MCDG; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Hoegen B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Boer L; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries MC; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Leenders E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Cornelissen EAM; Department of Pediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Schieving JH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Rubio-Gozalbo ME; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Pediatrics, Maastricht University Medical Centre, Maastricht University, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands; GROW-School for Oncology and Developmental Biology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands., Körver-Keularts IMLW; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands., Marten LM; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, University of Göttingen, Göttingen, Germany., Diegmann S; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, University of Göttingen, Göttingen, Germany., Mourmans J; Department of Pediatrics, Deventer Ziekenhuis, Deventer, The Netherlands., Rennings AJM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Rodenburg RJ; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Richard.Rodenburg@radboudumc.nl., Coene KLM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Chemistry and Hematology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 125-134. Date of Electronic Publication: 2022 Nov 09.
Autor:
Stelten BML; From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Radiology (G.J.L.N.), Haaglanden Medical Center, The Hague; Department of Neurology (E.H., A.V.), Canisius Wilhelmina Hospital; and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands. bianca.stelten@catharinaziekenhuis.nl., Lycklama À Nijeholt GJ; From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Radiology (G.J.L.N.), Haaglanden Medical Center, The Hague; Department of Neurology (E.H., A.V.), Canisius Wilhelmina Hospital; and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands., Hendriks E; From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Radiology (G.J.L.N.), Haaglanden Medical Center, The Hague; Department of Neurology (E.H., A.V.), Canisius Wilhelmina Hospital; and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands., Kluijtmans LAJ; From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Radiology (G.J.L.N.), Haaglanden Medical Center, The Hague; Department of Neurology (E.H., A.V.), Canisius Wilhelmina Hospital; and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands., Wevers RA; From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Radiology (G.J.L.N.), Haaglanden Medical Center, The Hague; Department of Neurology (E.H., A.V.), Canisius Wilhelmina Hospital; and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands., Verrips A; From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Radiology (G.J.L.N.), Haaglanden Medical Center, The Hague; Department of Neurology (E.H., A.V.), Canisius Wilhelmina Hospital; and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands.
Publikováno v:
Neurology [Neurology] 2022 Sep 27; Vol. 99 (13), pp. 559-566. Date of Electronic Publication: 2022 Aug 02.
Autor:
Bliziotis NG; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Tinnevelt GH; Department of Analytical Chemistry, Institute for Molecules and Materials, Radboud University, 6500 HB Nijmegen, The Netherlands., Reel P; Division of Population Health and Genomics, School of Medicine, University of Dundee, Dundee DD2 4BF, UK., Reel S; Division of Population Health and Genomics, School of Medicine, University of Dundee, Dundee DD2 4BF, UK., Langton K; Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Robledo M; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, 10124 Torino, Italy., Pamporaki C; Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Pecori A; Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, 10124 Torino, Italy., Van Kralingen J; British Heart Foundation Glasgow Cardiovascular Research Centre (BHF GCRC), Institute of Cardiovascular & Medical Sciences (ICAMS), University of Glasgow, Glasgow G12 8TA, UK., Tetti M; Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, 10124 Torino, Italy., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Erlic Z; Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), 8091 Zurich, Switzerland., Engel J; Biometris, Wageningen University & Research, 6708 PB Wageningen, The Netherlands., Deutschbein T; Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Würzburg, 97080 Wurzburg, Germany.; Medicover Oldenburg MVZ, 26122 Oldenburg, Germany., Nölting S; Department of Medicine IV, University Hospital, LMU Munich, 80336 Munich, Germany., Prejbisz A; Department of Hypertension, Institute of Cardiology, 04-628 Warsaw, Poland., Richter S; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus at the Technische Universität Dresden, 01307 Dresden, Germany., Adamski J; Research Unit Molecular Endocrinology and Metabolism, Genome Analysis Center, Helmholtz Center München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; Institute of Experimental Genetics, Technical University München, 85350 Freising-Weihenstephan, Germany.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119077, Singapore., Januszewicz A; Department of Hypertension, Institute of Cardiology, 04-628 Warsaw, Poland., Ceccato F; Endocrinology Unit, Department of Medicine DIMED, University-Hospital of Padova, 35128 Padova, Italy., Scaroni C; Endocrinology Unit, Department of Medicine DIMED, University-Hospital of Padova, 35128 Padova, Italy., Dennedy MC; The Discipline of Pharmacology and Therapeutics, School of Medicine, National University of Ireland, H91 CF50 Galway, Ireland., Williams TA; Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, 10124 Torino, Italy., Lenzini L; Department of Medicine-DIMED, Emergency and Hypertension Unit, University of Padova, University Hospital, 35126 Padova, Italy., Gimenez-Roqueplo AP; INSERM, PARCC, Université de Paris, 75015 Paris, France.; Service de Genétique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 75015 Paris, France., Davies E; British Heart Foundation Glasgow Cardiovascular Research Centre (BHF GCRC), Institute of Cardiovascular & Medical Sciences (ICAMS), University of Glasgow, Glasgow G12 8TA, UK., Fassnacht M; Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Würzburg, 97080 Wurzburg, Germany.; Core Unit Clinical Mass Spectrometry, University Hospital Würzburg, 97080 Würzburg, Germany.; Comprehensive Cancer Center Mainfranken, Würzburg University, 97070 Würzburg, Germany., Remde H; Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Würzburg, 97080 Wurzburg, Germany., Eisenhofer G; Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany.; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus at the Technische Universität Dresden, 01307 Dresden, Germany., Beuschlein F; Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), 8091 Zurich, Switzerland.; Department of Medicine IV, University Hospital, LMU Munich, 80336 Munich, Germany., Kroiss M; Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Würzburg, 97080 Wurzburg, Germany.; Department of Medicine IV, University Hospital, LMU Munich, 80336 Munich, Germany.; Core Unit Clinical Mass Spectrometry, University Hospital Würzburg, 97080 Würzburg, Germany.; Comprehensive Cancer Center Mainfranken, Würzburg University, 97070 Würzburg, Germany., Jefferson E; Division of Population Health and Genomics, School of Medicine, University of Dundee, Dundee DD2 4BF, UK.; Institute of Health & Wellbeing, Glasgow University, Glasgow G12 8RZ, UK., Zennaro MC; INSERM, PARCC, Université de Paris, 75015 Paris, France.; Service de Genétique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 75015 Paris, France., Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Jansen JJ; Department of Analytical Chemistry, Institute for Molecules and Materials, Radboud University, 6500 HB Nijmegen, The Netherlands., Deinum J; Department of Internal Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Timmers HJLM; Department of Internal Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Publikováno v:
Metabolites [Metabolites] 2022 Jul 24; Vol. 12 (8). Date of Electronic Publication: 2022 Jul 24.
Autor:
Tseng LA; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Huigen MCDG; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Centre, Veldhoven, The Netherlands., Wright JN; Department of Radiology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Gospe SM; Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.; Department of Pediatrics, Duke University, Durham, NC, USA., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Coene KLM; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Clinical chemistry [Clin Chem] 2022 May 18; Vol. 68 (5), pp. 732-735.
Autor:
Veenvliet ARJ; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands., Garrelfs MR; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands., Udink Ten Cate FEA; Academic Center for Congenital Heart Disease (ACAHA), Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Denis S; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; United for Metabolic Diseases, the Netherlands., Schwantje M; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Geurtzen R; Amalia Childrens Hospital, department of neonatology, Radboud University Medical Center, Nijmegen, the Netherlands., van Wegberg AMJ; Department of Gastroenterology and Hepatology, Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, the Netherlands., Huigen MCDG; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Wanders RJA; United for Metabolic Diseases, the Netherlands.; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Departments of Pediatrics and Human Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Derks TGJ; United for Metabolic Diseases, the Netherlands., de Boer L; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.; United for Metabolic Diseases, the Netherlands., Houtkooper RH; United for Metabolic Diseases, the Netherlands.; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands., de Vries MC; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.; United for Metabolic Diseases, the Netherlands., van Karnebeek CDM; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.; United for Metabolic Diseases, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Departments of Pediatrics and Human Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 May 04; Vol. 31, pp. 100873. Date of Electronic Publication: 2022 May 04 (Print Publication: 2022).
Autor:
Bliziotis NG; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands. nick.bliziotis@radboudumc.nl., Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands., Soto S; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands., Tinnevelt GH; Department of Analytical Chemistry, Institute for Molecules and Materials, Radboud University, Nijmegen, the Netherlands., Langton K; Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Robledo M; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Pamporaki C; Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands., Erlic Z; Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, Zürich, Switzerland., Engel J; Biometris, Wageningen UR, Wageningen, The Netherlands., Deutschbein T; Schwerpunkt Endokrinologie/Diabetologie, Medizinische Klinik und Poliklinik I, Universitätsklinikum Würzburg, Zürich, Germany.; Medicover Oldenburg MVZ, Oldenburg, Germany., Nölting S; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität, München, Munich, Germany., Prejbisz A; Department of Hypertension, Institute of Cardiology, Warsaw, Poland., Richter S; Institut für Klinische Chemie und Labormedizin, Universitätsklinikum Carl Gustav Carus, Dresden, Germany., Prehn C; Helmholtz Zentrum München, Research Unit Molecular Endocrinology and Metabolism, Neuherberg, Germany., Adamski J; Helmholtz Zentrum München, Research Unit Molecular Endocrinology and Metabolism, Neuherberg, Germany.; Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Januszewicz A; Department of Hypertension, Institute of Cardiology, Warsaw, Poland., Reincke M; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität, München, Munich, Germany., Fassnacht M; Schwerpunkt Endokrinologie/Diabetologie, Medizinische Klinik und Poliklinik I, Universitätsklinikum Würzburg, Zürich, Germany.; Core Unit Clinical Mass Spectrometry, University Hospital Würzburg, Würzburg, Germany.; Comprehensive Cancer Center Mainfranken, Universität Würzburg, Würzburg, Germany., Eisenhofer G; Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Institut für Klinische Chemie und Labormedizin, Universitätsklinikum Carl Gustav Carus, Dresden, Germany., Beuschlein F; Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, Zürich, Switzerland.; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität, München, Munich, Germany., Kroiss M; Schwerpunkt Endokrinologie/Diabetologie, Medizinische Klinik und Poliklinik I, Universitätsklinikum Würzburg, Zürich, Germany.; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität, München, Munich, Germany.; Core Unit Clinical Mass Spectrometry, University Hospital Würzburg, Würzburg, Germany.; Comprehensive Cancer Center Mainfranken, Universität Würzburg, Würzburg, Germany., Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands., Jansen JJ; Department of Analytical Chemistry, Institute for Molecules and Materials, Radboud University, Nijmegen, the Netherlands., Deinum J; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Timmers HJLM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands. henri.timmers@radboudumc.nl.
Publikováno v:
Endocrine [Endocrine] 2022 Jan; Vol. 75 (1), pp. 254-265. Date of Electronic Publication: 2021 Sep 18.