부산대학교 도서관

Kok, Gautam; Schene, Imre F; Ilcken, Eveline F; Alcaraz, Paula Sobrevals; Mendes, Marisa I; Smith, Desiree E C; Salomons, Gajja; Shehata, Sawsan; Jans, Judith J M; Maroofian, Reza; Hoek, Tim A; van Es, Robert M; Rehmann, Holger; Nieuwenhuis, Edward E S; Vos, Harmjan R; Fuchs, Sabine A

Nucleic Acids Research; 1/13/2025, Vol. 53 Issue 1, p1-12, 12p

Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany. Electronic address: luisasusan.averdunk@med.uni-duesseldorf.de.; Konzett K; Department of Pediatrics, Academic Teaching Hospital, Landeskrankenhaus Feldkirch, Feldkirch, Austria.; Mandel H; Institute of Human Genetics and Inherited Metabolic Disorders, Safed, Safed, Israel.; Linden T; University Children's Hospital Oldenburg, Department of Neuropediatrics, Oldenburg, Germany.; Neveu J; Service de Neuropédiatrie, Hôpitaux Pédiatriques de Nice, CHU Lenval, Nice, France.; Rohrlich P; Department of Pediatric Hematology-Oncology, Nice University Hospital, Nice, France.; Herrmann M; St Josef-Hospital, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany.; Lücke T; St Josef-Hospital, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany.; Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, Germany.; Nunez Duran PA; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany.; Samra NN; Institute of Human Genetics and Inherited Metabolic Disorders, Safed, Safed, Israel.; Rudnik S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Smith DEC; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany.; Salomons GS; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany.; Mendes MI; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Vallee I; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, California, USA.; Shapiro R; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, California, USA.; Qi L; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, California, USA.; Mendes MI; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Smith DEC; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Zhang Q; Institute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen, China.; Kanaji T; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, California, USA.; Kuhle B; Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, Germany; Research Group Structure and Function of Molecular Machines, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Yang XL; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, California, USA. Electronic address: xlyang@scripps.edu.

Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

Mendes MI; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, VU University Amsterdam, De Boelelaan 1117, 1081HV Amsterdam, the Netherlands.; Rudinger-Thirion J; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN UPR 9002, Institut de Biologie Moléculaire et Cellulaire, 2 allée Konrad Roentgen, 67084 Strasbourg, France.; Lenz D; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Frugier M; Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN UPR 9002, Institut de Biologie Moléculaire et Cellulaire, 2 allée Konrad Roentgen, 67084 Strasbourg, France.; Verloo P; Department of Pediatric Neurology, Center for Inherited Metabolic Disorders and metabERN, University Hospital Ghent, C. Heymanslaan 10, B-9000 Ghent, Belgium.; Mandel H; Department of Genetic and Metabolic Disorders, Ziv Medical Center, Derech HaRambam 1, Safed, Israel.; Manor J; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel-Hashomer, Derech Sheba 2, Ramat Gan, Israel.; Kassel R; Department of Pediatrics, University of Alabama at Birmingham School of Medicine, 1670 University Blvd, Birmingham, AL 35233, USA.; Corpeleijn WE; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Diabetes and Metabolism, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; van der Rijt S; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Schroor EM; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; van Dooren SJM; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Staufner C; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Salomons GS; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Smith DEC; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

den Bakker E; Department of Pediatric Nephrology, Emma Childrens Hospital, Amsterdam UMC, Amsterdam, the Netherlands.; Smith DEC; Department of Metabolic Diseases, Amsterdam UMC, Amsterdam, the Netherlands.; Finken MJJ; Department of Pediatric Endocrinology, Emma Childrens Hospital, Amsterdam UMC, Amsterdam, the Netherlands.; Wamelink MMC; Department of Metabolic Diseases, Amsterdam UMC, Amsterdam, the Netherlands.; Salomons GS; Department of Metabolic Diseases, Amsterdam UMC, Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, Amsterdam, the Netherlands.; van de Kamp JM; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, Amsterdam, the Netherlands.; Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Human Genetics, Amsterdam UMC, Amsterdam, the Netherlands.; Bökenkamp A; Department of Pediatric Nephrology, Emma Childrens Hospital, Amsterdam UMC, Amsterdam, the Netherlands.

Publisher: Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 0043306 Publication Model: Print Cited Medium: Internet ISSN: 1744-1358 (Electronic) Linking ISSN: 00711365 NLM ISO Abbreviation: Essays Biochem Subsets: MEDLINE

Botta, Elena; Theil, Arjan F; Raams, Anja; Caligiuri, Giuseppina; Giachetti, Sarah; Bione, Silvia; Accadia, Maria; Lombardi, Anita; Smith, Desiree E C; Mendes, Marisa I; Swagemakers, Sigrid M A; Spek, Peter J van der; Salomons, Gajja S; Hoeijmakers, Jan H J; Yesodharan, Dhanya; Nampoothiri, Sheela; Ogi, Tomoo; Lehmann, Alan R; Orioli, Donata; Vermeulen, Wim

Human Molecular Genetics; Sep2021, Vol. 30 Issue 18, p1711-1720, 10p

Liepina L; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.; Department of Neurology Erasmus University Medical Center Rotterdam The Netherlands.; Smith DEC; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.; Huidekoper H; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.; Zeidler S; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.; Wamelink M; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.; de Wit MC; Department of Child Neurology Sophia Children's Hospital, Erasmus University Medical Center Rotterdam The Netherlands.; Wilke M; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.; Ruijter G; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.; Bierau J; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.; Blom HJ; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases 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

Del Greco C; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Kuo ME; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Smith DEC; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Mendes MI; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Salamons GS; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Nemcovic M; Institute of Chemistry, Department of Glycobiology, Slovak Academy of Sciences, Bratislava, Slovakia.; Kodrikova R; Institute of Chemistry, Department of Glycobiology, Slovak Academy of Sciences, Bratislava, Slovakia.; Sestak S; Institute of Chemistry, Department of Glycobiology, Slovak Academy of Sciences, Bratislava, Slovakia.; Stancheva M; Medico-Dental Center Mediva, Sofia, Bulgaria.; Antonellis A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

van de Kamp JM; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Bökenkamp A; Emma Children's Hospital, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Smith DEC; Department of Clinical Chemistry, Metabolic Laboratory, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Wamelink MMC; Department of Clinical Chemistry, Metabolic Laboratory, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Jansen EEW; Department of Clinical Chemistry, Metabolic Laboratory, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Struys EA; Department of Clinical Chemistry, Metabolic Laboratory, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Waisfisz Q; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Verkleij M; Department of Pediatric Psychology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Hartmann MF; Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics in Pediatric Endocrinology, Division of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.; Wang R; Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics in Pediatric Endocrinology, Division of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.; Wudy SA; Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics in Pediatric Endocrinology, Division of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.; Paganini C; Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy.; Rossi A; Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy.; Finken MJJ; Emma Children's Hospital, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Bögershausen N; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Krawczyk HE; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Hüning I; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.; Polo AM; MVZ Labor Krone, Filialpraxis für Humangenetik, Bielefeld, Germany.; Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.; Schmidt J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Altmüller J; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Core Facility Genomics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Luppe J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Dörgeloh BB; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.; Busche A; Institut für Humangenetik, Westfälische Wilhelms-Universität Münster, Münster, Germany.; Biskup S; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.; Mendes MI; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Netherlands.; Smith DEC; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Netherlands.; Salomons GS; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Netherlands.; Zibat A; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Bültmann E; Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.; Nürnberg P; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Spielmann M; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Li Y; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Zenker M; Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.; Hillen HS; Research Group Structure and Function of Molecular Machines, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines to Networks of Excitable cells' (MBExC), University of Göttingen, Göttingen, Germany.; Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines to Networks of Excitable cells' (MBExC), University of Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Ravel JM; Reference Centre of Inborn Metabolism Diseases, Université de Lorraine, CHRU-Nancy, Nancy, France.; NGERE, Université de Lorraine, Inserm, Nancy, France.; Dreumont N; NGERE, Université de Lorraine, Inserm, Nancy, France.; Mosca P; NGERE, Université de Lorraine, Inserm, Nancy, France.; Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Wiedemann A; NGERE, Université de Lorraine, Inserm, Nancy, France.; Coelho D; NGERE, Université de Lorraine, Inserm, Nancy, France.; Schmitt E; Service de Neuroradiologie, CHRU Nancy, Nancy, France.; Rivière JB; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Compétence Maladies Mitochondriales, FHU TRANSLAD, Hôpital d'Enfants, CHU de Dijon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Compétence Maladies Mitochondriales, FHU TRANSLAD, Hôpital d'Enfants, CHU de Dijon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Thevenon J; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Compétence Maladies Mitochondriales, FHU TRANSLAD, Hôpital d'Enfants, CHU de Dijon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Kuentz P; Centre de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Compétence Maladies Mitochondriales, FHU TRANSLAD, Hôpital d'Enfants, CHU de Dijon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Polivka M; Department of Pathology, Hôpital Lariboisière, Paris, France.; Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, Regenerative Medicine Utrecht, Utrecht, The Netherlands.; On behalf of 'United for Metabolic Diseases,', Amsterdam, the Netherlands.; Kok G; Department of Pathology, Hôpital Lariboisière, Paris, France.; Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Compétence Maladies Mitochondriales, FHU TRANSLAD, Hôpital d'Enfants, CHU de Dijon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Guéant JL; Reference Centre of Inborn Metabolism Diseases, Université de Lorraine, CHRU-Nancy, Nancy, France.; NGERE, Université de Lorraine, Inserm, Nancy, France.; Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Faivre L; Centre de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Compétence Maladies Mitochondriales, FHU TRANSLAD, Hôpital d'Enfants, CHU de Dijon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Feillet F; Reference Centre of Inborn Metabolism Diseases, Université de Lorraine, CHRU-Nancy, Nancy, France.; NGERE, Université de Lorraine, Inserm, Nancy, France.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Schuch LA; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany.; Forstner M; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany.; Rapp CK; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany.; Li Y; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany.; Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology & Metabolism, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology & Metabolism, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Delhommel F; Institute of Structural Biology, Helmholtz Zentrum München, Neuherberg, Germany.; Center for Integrated Protein Science Munich, Department of Chemistry, Technical University of Munich, Garching, Germany.; Sattler M; Institute of Structural Biology, Helmholtz Zentrum München, Neuherberg, Germany.; Center for Integrated Protein Science Munich, Department of Chemistry, Technical University of Munich, Garching, Germany.; Emiralioğlu N; Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Taskiran EZ; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Orhan D; Department of Pediatric Pathology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Kiper N; Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Rohlfs M; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.; Jeske T; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.; Hastreiter M; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.; Gerstlauer M; Children's Hospital Augsburg, Augsburg University, Augsburg, Germany.; Torrent-Vernetta A; Pediatric Allergy and Pulmonology Section, Department of Pediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Moreno-Galdó A; Pediatric Allergy and Pulmonology Section, Department of Pediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Kammer B; Pediatric Radiology, Clinic for Radiology, LMU Munich, Munich, Germany.; Brasch F; Institute for Pathology, Klinikum Bielefeld Mitte, Bielefeld, Germany.; Reu-Hofer S; Department of Pathology, Würzburg University, Würzburg, Germany.; Griese M; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Tabolacci E; Fondazione Policlinico Universitario A. Gemelli IRCCS, Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.; Molinario C; Fondazione Policlinico Universitario A. Gemelli IRCCS, Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.; Marangi G; Fondazione Policlinico Universitario A. Gemelli IRCCS, Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.; Nobile V; Fondazione Policlinico Universitario A. Gemelli IRCCS, Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.; Arena V; Department of Woman, Child Health and Public Health, Area of Pathology, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Anatomia Patologica, Università Cattolica del Sacro Cuore, Rome, Italy.; Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, Amsterdam, The Netherlands.; Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, Amsterdam, The Netherlands.; Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, Amsterdam, The Netherlands.; Tana M; Department of Woman, Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Costa S; Department of Woman, Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Vento G; Department of Woman, Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Pediatria, Università Cattolica del Sacro Cuore, Rome, Italy.; Genuardi M; Fondazione Policlinico Universitario A. Gemelli IRCCS, Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.; Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, Rome, Italy.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Wang L; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Li Z; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Sievert D; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands.; Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands.; Chen DY; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA.; Stanley V; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Ghosh S; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Wang Y; Laboratory of Biomanufacturing and Food Engineering, Institute of Food Science and Technology, Chinese Academy of Agricultural Sciences, Beijing, 100193, PR China.; Kara M; University of Tripoli, Tripoli Children's Hospital, Tripoli, Libya.; Aslanger AD; Department of Medical Genetics, Koç University Hospital, Istanbul, 34010, Turkey.; Rosti RO; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands.; Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@health.ucsd.edu.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA. jogleeson@health.ucsd.edu.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@health.ucsd.edu.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA. jogleeson@health.ucsd.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE; PubMed not MEDLINE

Lenz D; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Stahl M; Department of Translational Pulmonology, Translational Lung Research Center Heidelberg (TLRC), German Centre for Lung Research (DZL), University of Heidelberg, Heidelberg, Germany.; Department of Pediatric Pulmonology, Immunology and Intensive Care Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Seidl E; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany.; Schöndorf D; Division of Pediatric Pulmonology and Allergy and Cystic Fibrosis Center, Department of Pediatrics, University of Heidelberg, Heidelberg, Germany.; Brennenstuhl H; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Gesenhues F; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany.; Heinzmann T; Department of Neonatology, Department of Pediatrics, University of Heidelberg, Heidelberg, Germany.; Longerich T; Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Prokisch H; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Schön C; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany.; Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Sommerburg O; Department of Translational Pulmonology, Translational Lung Research Center Heidelberg (TLRC), German Centre for Lung Research (DZL), University of Heidelberg, Heidelberg, Germany.; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Westhoff JH; Department of Pediatrics I, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Reiter K; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany.; Staufner C; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Griese M; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

Wang L; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Li Z; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Sievert D; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands.; Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands.; Chen DY; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA.; Stanley V; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Ghosh S; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Wang Y; Laboratory of Biomanufacturing and Food Engineering, Institute of Food Science and Technology, Chinese Academy of Agricultural Sciences, Beijing, 100193, PR China.; Kara M; University of Tripoli, Tripoli Children's Hospital, Tripoli, Libya.; Aslanger AD; Department of Medical Genetics, Koç University Hospital, Istanbul, 34010, Turkey.; Rosti RO; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands.; Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@health.ucsd.edu.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA. jogleeson@health.ucsd.edu.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@health.ucsd.edu.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA. jogleeson@health.ucsd.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Farkas M; Keskitalo S; Smith DE; Bain N; Semmler A; Ineichen B; Smulders Y; Blom H; Kulic L; Linnebank M; Farkas, Melinda; Keskitalo, Salla; Smith, Desiree E C; Bain, Nadja; Semmler, Alexander; Ineichen, Benjamin; Smulders, Yvo; Blom, Henk; Kulic, Luka; Linnebank, Michael

Journal of Alzheimer's Disease. 2013, Vol. 33 Issue 1, p1097-1104. 8p.

Oosterom N; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Chemistry, Rotterdam, The Netherlands.; de Jonge R; VU Medical Center, Department of Clinical Chemistry, Amsterdam, The Netherlands.; Academic Medical Center, Department of Clinical Chemistry, Amsterdam, The Netherlands.; Smith DEC; VU Medical Center, Department of Clinical Chemistry, Amsterdam, The Netherlands.; Pieters R; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Tissing WJE; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Pediatric Oncology, University of Groningen, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.; Fiocco M; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Mathematical Institute, Leiden University, Leiden, The Netherlands.; Leiden University Medical Center, Department of Biomedical Data Sciences, Leiden, The Netherlands.; van Zelst BD; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Chemistry, Rotterdam, The Netherlands.; van den Heuvel-Eibrink MM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Heil SG; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Chemistry, Rotterdam, The Netherlands.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Davids, Mariska; Swieringa, Eliane; Palm, Fredrik; Smith, Desirée E C; Smulders, Yvo M; Scheffer, Peter G; Blom, Henk J; Teerlink, Tom

Journal of chromatography. B. 900:38-47

Kuijpers TW; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center (UMC), location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Department of Blood Cell Research, Sanquin, University of Amsterdam, Amsterdam, The Netherlands.; de Vries ACH; Department of Pediatric Oncology, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Leeuwen EM; Department of Experimental Immunology (EXIM), Amsterdam UMC, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Laboratory of Immunology, AUMC, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Ermens ATAM; Department of Clinical Chemistry, Amphia Hospital, Breda, The Netherlands.; de Pont S; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands.; Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center, location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Wamelink MMC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center, location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Mensenkamp AR; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.; Nelen MR; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.; Lango Allen H; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.; Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Pals ST; Department of Pathology, Amsterdam UMC, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Beverloo BHB; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Wagner A; Department of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE