부산대학교 도서관

Wortmann, SB; Vaz, FM; Gardeitchik, T; Vissers, LELM; Renkema, GH; Schuurs-Hoeijmakers, JHM; Kulik, W; Lammens, M; Christin, C; Kluijtmans, LAJ

NATURE GENETICS. 44(7):797-802

Geerdink JX; Departments of ICU, Gelre Hospitals, Apeldoorn, The Netherlands. jasper.geerdink@gmail.com.; University Medical Center Utrecht, Utrecht, The Netherlands. jasper.geerdink@gmail.com.; van der Wal G; Departments of ICU, Gelre Hospitals, Apeldoorn, The Netherlands.; Expertise Centre for Intensive Care Rehabilitation Apeldoorn (ExpIRA), Apeldoorn, The Netherlands.; de Jong LAA; Gelre Hospitals Clinical Pharmacy, Apeldoorn, The Netherlands.; Expertise Centre for TDM and Toxicology (Gelre-iLab), Apeldoorn, The Netherlands.; Olyslager EJH; Gelre Hospitals Clinical Pharmacy, Apeldoorn, The Netherlands.; Expertise Centre for TDM and Toxicology (Gelre-iLab), Apeldoorn, The Netherlands.; van den Goorbergh TW; Departments of ICU, Gelre Hospitals, Apeldoorn, The Netherlands.; Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Spronk PE; Departments of ICU, Gelre Hospitals, Apeldoorn, The Netherlands.; Expertise Centre for Intensive Care Rehabilitation Apeldoorn (ExpIRA), Apeldoorn, The Netherlands.

Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 9801902 Publication Model: Electronic Cited Medium: Internet ISSN: 1466-609X (Electronic) Linking ISSN: 13648535 NLM ISO Abbreviation: Crit Care Subsets: MEDLINE

Aukes R; Department of Pediatrics, Division of Metabolic Disorders, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Albersen M; Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Boelen A; Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Kluijtmans LAJ; Laboratory of Genome Diagnostics, Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Visser WF; Center for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, the Netherlands.; de Vries MC; Department of Pediatrics, Division of Metabolic Disorders, Radboud University Medical Center, Nijmegen, the Netherlands.; Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Wortmann, SB; Chen, MA; Colombo, R; Pontoglio, A; Alhaddad, B; Botto, LD; Yuzyuk, T; Coughlin, CR; Descartes, M; Grűnewald, S; Maranda, B; Mills, PB; Pitt, J; Potente, C; Rodenburg, R; Kluijtmans, LAJ; Sampath, S; Pai, EF; Wevers, RA; Tiller, GE; Kyriss, MNM; Reid, ES; Thomas, JA; Waters, PJ; White, SM

J Inherit Metab Dis
Journal of Inherited Metabolic Disease, 40, 3, pp. 423-431
J. Inherit. Metab. Dis. 40, 423-431 (2017)

Stroek, K; Boelen, A; Bouva, MJ; de Sain-van der Velden, M; Schielen, PCJI; Maase, R; Engel, H; Jakobs, B; Kluijtmans, LAJ; etal

Janssen, MCH ; Kluijtmans, LAJ ; Wortmann, SB

In BBA Clinical June 2014 1:30-32

Verhoeven WMA; Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands.; Centre for Consultation and Expertise, Utrecht, The Netherlands.; Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Engelke UFH; Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.; Kluijtmans LAJ; Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.; Egger JIM; Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.

Publisher: Dove Medical Press Country of Publication: New Zealand NLM ID: 101566269 Publication Model: eCollection Cited Medium: Print ISSN: 1179-142X (Print) Linking ISSN: 1179142X NLM ISO Abbreviation: Int Med Case Rep J Subsets: PubMed not MEDLINE

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.

Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

Wertheim, Heiman; Ammerlaan, HSM; Bonten, MJM; van den Broek, PJ; Troelstra, A; Vandenbroucke-Grauls, CMJE; Vos, Greet; Voss, A; Nouwen, Jan; Kluijtmans, LAJ

Nederlands Tijdschrift voor Geneeskunde. 152:2667-2671

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.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101578790 Publication Model: Electronic Cited Medium: Print ISSN: 2218-1989 (Print) Linking ISSN: 22181989 NLM ISO Abbreviation: Metabolites Subsets: PubMed not MEDLINE

de Bree, A; Verschuren, WMMrivm; Kromhout, D; Kluijtmans, LAJ; Blom, HJ

Pharmacological Reviews, 54, 4, pp. 599-618

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.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101578790 Publication Model: Electronic Cited Medium: Print ISSN: 2218-1989 (Print) Linking ISSN: 22181989 NLM ISO Abbreviation: Metabolites Subsets: PubMed not MEDLINE

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.

Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

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.

Publisher: Springer Country of Publication: United States NLM ID: 9434444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0100 (Electronic) Linking ISSN: 1355008X NLM ISO Abbreviation: Endocrine Subsets: MEDLINE

Stelten BML; From the, Department of Neurology, Catharina Hospital, Eindhoven, The Netherlands.; Raal FJ; The Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Marais AD; Chemical pathology, University of Cape Town, Cape Town, South Africa.; Riksen NP; Department of Internal Medicine, Division of Vascular Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Roeters van Lennep JE; Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.; Duell PB; Division of Endocrinology, Diabetes, and Clinical Nutrition, Knight Cardiovascular Institute, Oregon Health and Science University, Portland, OR, USA.; van der Graaf M; Department of Medical Imaging, Radboud University Medical Center, Nijmegen, The Netherlands.; Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.; Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.; Verrips A; Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 8904841 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2796 (Electronic) Linking ISSN: 09546820 NLM ISO Abbreviation: J Intern Med Subsets: MEDLINE

Hoegen B; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Radboud Institute of 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.; Gerritsen A; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Engelke UFH; Radboud Institute of Molecular Life Sciences, 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.; Castelein S; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; van de Vorst M; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Huigen MCDG; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Wevers RA; Radboud Institute of Molecular Life Sciences, 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.; van Gool AJ; Radboud Institute of Molecular Life Sciences, 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.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Coene KLM; Radboud Institute of Molecular Life Sciences, 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.; Kulkarni P; Radboud Institute of Molecular Life Sciences, 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.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101578790 Publication Model: Electronic Cited Medium: Print ISSN: 2218-1989 (Print) Linking ISSN: 22181989 NLM ISO Abbreviation: Metabolites Subsets: PubMed not MEDLINE

den Hollander B; Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.; United for Metabolic Diseases, Amsterdam, Netherlands.; Rasing A; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.; Post MA; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; Klein WM; Department of Radiology and Nuclear Medicine and Anatomy, Radboud University Medical Centre, Nijmegen, Netherlands.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.; Brands MM; Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; United for Metabolic Diseases, Amsterdam, Netherlands.; de Boer L; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.; Engelke UFH; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; van Essen P; Radboudumc Technology Center Clinical Studies, Radboud University Medical Center, Nijmegen, Netherlands.; Fuchs SA; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands.; Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.; Jensson BO; Decode Genetics/Amgen, Inc., Reykjavik, Iceland.; Kluijtmans LAJ; United for Metabolic Diseases, Amsterdam, Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; Lengyel A; 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.; Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.; Østergaard E; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Peters G; Department of Rehabilitation Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; Salvarinova R; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.; Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.; Stefansson K; Decode Genetics/Amgen, Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Thorarensen Ó; Department of Pediatrics, Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavík, Iceland.; Ulmen U; Department of Pediatrics, Sana Klinikum Lichtenberg, Berlin, Germany.; Coene KLM; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; Willemsen MA; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.; Lefeber DJ; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; van Karnebeek CDM; Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.; United for Metabolic Diseases, Amsterdam, Netherlands.; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Hagemeijer MC; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center Rotterdam The Netherlands.; Oussoren E; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics Erasmus University Medical Center Rotterdam The Netherlands.; Ruijter GJG; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center Rotterdam The Netherlands.; Onkenhout W; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center Rotterdam The Netherlands.; Huidekoper HH; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics Erasmus University Medical Center Rotterdam The Netherlands.; Ebberink MS; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.; Waterham HR; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.; Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.; de Vries MC; 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.; Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML) Radboud University Medical Center Nijmegen The Netherlands.; Coene KLM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML) Radboud University Medical Center Nijmegen The Netherlands.; Blom HJ; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center Rotterdam The Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

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.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Coene KLM; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands.; Timmer C; Department Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.; Goorden SMI; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.; Ten Hoedt AE; Department of Paediatrics, Division of Metabolic Disorders Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.; Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands.; Janssen MCH; Department of Internal Medicine Radboud University Medical Centre Nijmegen The Netherlands.; Rennings AJM; Department of Internal Medicine Radboud University Medical Centre Nijmegen The Netherlands.; Prinsen HCMT; Section Metabolic Diagnostics, Department of Genetics UMC Utrecht Utrecht The Netherlands.; Wamelink MMC; Metabolic Laboratory, Department of Clinical Chemistry Amsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The Netherlands.; Ruijter GJG; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands.; Körver-Keularts IMLW; Laboratory of Biochemical Genetics, Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands.; Heiner-Fokkema MR; Laboratory of Metabolic Diseases University of Groningen, University Medical Center Groningen Groningen The Netherlands.; van Spronsen FJ; Division of Metabolic Diseases Beatrix Children's Hospital, University Medical Centre Groningen Groningen The Netherlands.; Hollak CE; Department Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.; Vaz FM; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.; Bosch AM; Department of Paediatrics, Division of Metabolic Disorders Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.; Huigen MCDG; Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE