부산대학교 도서관

van Binsbergen BA; Department of Plastic Reconstructive and Hand Surgery, University Medical Center Utrecht, Wilhelmina Children's Hospital, The Netherlands.; van Dongen JA; Department of Plastic Reconstructive and Hand Surgery, University Medical Center Utrecht, Wilhelmina Children's Hospital, The Netherlands.; Vriend L; Department of Plastic Reconstructive and Hand Surgery, University Medical Center Utrecht, Wilhelmina Children's Hospital, The Netherlands.; Doctors At Soap, Amsterdam North-Holland, The Netherlands.; Goedee SH; Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, The Netherlands.; van Hasselt PM; Department of Pediatric Metabolic Diseases, University Medical Center Utrecht, Wilhelmina Children's Hospital, The Netherlands.; Mink van der Molen AB; Department of Plastic Reconstructive and Hand Surgery, University Medical Center Utrecht, Wilhelmina Children's Hospital, The Netherlands.

Publisher: Sage Publications Country of Publication: England NLM ID: 101315820 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2043-6289 (Electronic) Linking ISSN: 02667681 NLM ISO Abbreviation: J Hand Surg Eur Vol Subsets: MEDLINE

Fairall L; Institute for Structural and Chemical Biology, Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.; Sirvydis K; Institute for Structural and Chemical Biology, Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.; Turnbull RE; Institute for Structural and Chemical Biology, Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.; Knottnerus SJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Gonchar O; Institute for Structural and Chemical Biology, Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.; Muskett FW; Institute for Structural and Chemical Biology, Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.; Jukes-Jones R; Institute for Structural and Chemical Biology, Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.; van Brussel L; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van de Geer E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Gassen K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Badenhorst P; Institute of Cancer and Genomic Sciences, University of Birmingham, Edgbaston, UK.; Johnson D; Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Hasselt PM; Department of Metabolic Disease, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. R.H.vanJaarsveld@umcutrecht.nl.; Schwabe JW; Institute for Structural and Chemical Biology, Department of Molecular and Cell Biology, University of Leicester, Leicester, UK. john.schwabe@leicester.ac.uk.

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

Henrard, Ruben (B-UHAS-PI) AMS Author Profile; van Roosmalen, Adam-Christiaan (PRC-SJTLU-PM) AMS Author Profile

Journal of Pure and Applied Algebra (J. Pure Appl. Algebra) (20240101), 228, no. 7, Paper No 107635, 37 pp. ISSN: 0022-4049 (print).eISSN: 1873-1376.

Wortmann, SB; van, Hasselt PM; Baric, I; Burlina, A; Darin, N; Hoerster, F; Coker, M; Ucar, SK; Krumina, Z; Naess, K

NEUROPEDIATRICS. 46(2):98-103

Joore IP; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, Utrecht, The Netherlands.; Shehata S; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, Utrecht, The Netherlands.; Muffels I; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, Utrecht, The Netherlands.; Castro-Alpízar J; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, Utrecht, The Netherlands.; Jiménez-Curiel E; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, Utrecht, The Netherlands.; Nagyova E; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, Utrecht, The Netherlands.; Levy N; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, Utrecht, The Netherlands.; Tang Z; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Oncode Institute, Utrecht, The Netherlands.; Smit K; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Oncode Institute, Utrecht, The Netherlands.; Vermeij WP; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Oncode Institute, Utrecht, The Netherlands.; Rodenburg R; Department of Pediatrics, Radboud UMC, Nijmegen, The Netherlands.; Department of Genetics, Radboud UMC, Nijmegen, The Netherlands.; Schiffelers R; CDL Research, UMC Utrecht, Utrecht, The Netherlands.; Nieuwenhuis EES; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, Utrecht, The Netherlands.; Koppens MAJ; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, Utrecht, The Netherlands.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101183755 Publication Model: eCollection Cited Medium: Internet ISSN: 1545-7885 (Electronic) Linking ISSN: 15449173 NLM ISO Abbreviation: PLoS Biol Subsets: MEDLINE

Smits DJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Ferraro F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Drost M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van der Linde HC; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; de Graaf BM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van Bever Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Bardina L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Debuy C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van Dijk BT; Department of Paediatrics, Willem-Alexander Children's Hospital, Division of Neonatology, Leiden University Medical Centre, Leiden, the Netherlands.; van Engelen N; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Geeven G; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van de Graaf R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van Haaften-Visser DY; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; van Hasselt PM; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands.; Heijsman D; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Hendriks YMC; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Hitti-Malin RJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Huijbregts G; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; IJspeert H; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Lamballais S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Mijalkovic J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Mol MO; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Nawawi D; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Nederpelt N; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Te Rijdt W; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Sleutels F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Ulenkate ELM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Van Veghel-Plandsoen M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Verhagen JMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Vos D; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Wauters E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Sylva M; Department of Neonatal and Pediatric Intensive Care, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Kleefstra T; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Department Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands.; Rots D; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. d.rots@erasmusmc.nl.; Verhoeven VJM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. v.verhoeven@erasmusmc.nl.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Bloothooft M; Department of Medical Physiology, Division of Heart & Lungs, University Medical Center Utrecht, Utrecht, the Netherlands.; Huang J; Department of Pharmaceutical Sciences, University of Vienna, Vienna, Austria.; Hamze M; INMED, INSERM, Aix-Marseille Université, Marseille, France.; Houtman MJC; Department of Medical Physiology, Division of Heart & Lungs, University Medical Center Utrecht, Utrecht, the Netherlands.; de Boer TP; Department of Medical Physiology, Division of Heart & Lungs, University Medical Center Utrecht, Utrecht, the Netherlands.; van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands.; Ecker GF; Department of Pharmaceutical Sciences, University of Vienna, Vienna, Austria.; Porcher C; INMED, INSERM, Aix-Marseille Université, Marseille, France.; Medina I; INMED, INSERM, Aix-Marseille Université, Marseille, France.; van der Heyden MAG; Department of Medical Physiology, Division of Heart & Lungs, University Medical Center Utrecht, Utrecht, the Netherlands.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0050222 Publication Model: Print Cited Medium: Internet ISSN: 1097-4652 (Electronic) Linking ISSN: 00219541 NLM ISO Abbreviation: J Cell Physiol Subsets: MEDLINE

Braunling, Oliver (E-MADA-M) AMS Author Profile; Henrard, Ruben (B-UHAS-NDM) AMS Author Profile; van Roosmalen, Adam-Christiaan (PRC-SJTLU-PM) AMS Author Profile

Journal of the Institute of Mathematics of Jussieu. JIMJ. Journal de l'Institut de Mathématiques de Jussieu (J. Inst. Math. Jussieu) (20240101), 23, no. 6, 2777-2824. ISSN: 1474-7480 (print).eISSN: 1475-3030.

Balfoort BM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Van den Broeck F; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium.; Boon CJF; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.; Brouwers MCGJ; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center, Maastricht, The Netherlands.; Diederen RMH; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Dhillon P; Genetics and Genome Biology, Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada.; van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Jaeger B; Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Karuntu JS; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.; Rennings AJM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; van Spronsen FJ; Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Timmer C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Nutrition and Dietetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.; De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Leroy BP; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Division of Ophthalmology and Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Schulze A; Genetics and Genome Biology, Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada.; Department of Pediatrics and Biochemistry, University of Toronto, Toronto, Canada.; Clinical and Metabolic Genetics, the Hospital for Sick Children, Toronto, Canada.; van Karnebeek CD; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands.; Brands MM; Department of Pediatrics, Emma Children's Hospital, 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

Touw, CML; Aldenhoven, M; van Hasselt, PM; Wijburg, FA; Teunissen, Q; van der Ploeg, Ans; Mulder, MF (Margot); Boelens, JJ; Koning, Titia

Tijdschrift voor Kindergeneeskunde. 78(4):149-154

Hieltjes IJ; Knowledge Institute of the Dutch Association of Medical Specialists Utrecht The Netherlands.; Department of Pediatrics and Human Genetics, Emma Center for Personalized Medicine Amsterdam UMC Amsterdam The Netherlands.; van der Lee JH; Knowledge Institute of the Dutch Association of Medical Specialists Utrecht The Netherlands.; Groenendijk MC; MetaPACT The Netherlands.; Stichting Stofwisselkracht The Netherlands.; United for Metabolic Diseases (UMD) The Netherlands.; van Haaften G; United for Metabolic Diseases (UMD) The Netherlands.; Department of Genetics UMC Utrecht Utrecht The Netherlands.; van Hasselt PM; United for Metabolic Diseases (UMD) The Netherlands.; Department of Metabolic Diseases, Wilhelmina Children's Hospital UMC Utrecht Utrecht The Netherlands.; Lunsing RJ; United for Metabolic Diseases (UMD) The Netherlands.; Department of Pediatric Neurology, University Medical Center Groningen University of Groningen Groningen The Netherlands.; van Prooijen GJJ; MetaPACT The Netherlands.; Patiëntenvereniging voor Stofwisselingsziekten (VKS) The Netherlands.; de Ruiter EM; United for Metabolic Diseases (UMD) The Netherlands.; van Spronsen FJ; United for Metabolic Diseases (UMD) The Netherlands.; Department of Pediatric Neurology, University Medical Center Groningen University of Groningen Groningen The Netherlands.; Verhoeven-Duif NM; United for Metabolic Diseases (UMD) The Netherlands.; Department of Metabolic Diseases, Wilhelmina Children's Hospital UMC Utrecht Utrecht The Netherlands.; de Vreugd A; United for Metabolic Diseases (UMD) The Netherlands.; Department of Pediatrics Radboud University Medical Center Amalia Children's Hospital Nijmegen The Netherlands.; Wagenmakers M; United for Metabolic Diseases (UMD) The Netherlands.; Department of Internal Medicine, Erasmus MC, Center for Lysosomal and Metabolic Disease Erasmus University Medical Center Rotterdam Rotterdam The Netherlands.; Zweers H; United for Metabolic Diseases (UMD) The Netherlands.; Diëtisten Erfelijke Stofwisselingsziekten (DIES).; Dekker H; MetaPACT The Netherlands.; United for Metabolic Diseases (UMD) The Netherlands.; Patiëntenvereniging voor Stofwisselingsziekten (VKS) The Netherlands.; Waterham HR; United for Metabolic Diseases (UMD) The Netherlands.; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine Amsterdam UMC Amsterdam The Netherlands.; van Karnebeek CD; Department of Pediatrics and Human Genetics, Emma Center for Personalized Medicine Amsterdam UMC Amsterdam The Netherlands.; United for Metabolic Diseases (UMD) The Netherlands.; Wanders RJA; United for Metabolic Diseases (UMD) The Netherlands.; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine Amsterdam UMC Amsterdam The Netherlands.; Wevers RA; United for Metabolic Diseases (UMD) The Netherlands.; Department of Human Genetics, Translational Metabolic Laboratory (TML) Radboud University Medical Center 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

Henrard, Ruben (B-UHAS-PI) AMS Author Profile; Kvamme, Sondre (N-NUST) AMS Author Profile; van Roosmalen, Adam-Christiaan (PRC-SJTLU-PM) AMS Author Profile; Wegner, Sven-Ake (D-HAMB) AMS Author Profile

Revista Matemática Iberoamericana (Rev. Mat. Iberoam.) (20230101), 39, no. 2, 439-494. ISSN: 0213-2230 (print).eISSN: 2235-0616.

Al-Saady ML; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Galabova H; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Schoenmakers DH; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Medicine for Society, Platform at Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Beerepoot S; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.; Nierkens and Lindemans group, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Lindemans C; Pediatric blood and Bone marrow transplantation, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; van Hasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, Netherlands.; van der Knaap MS; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Wolf NI; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Pouwels PJW; Department of Radiology and Nuclear Medicine, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Vrije Universiteit & Universiteit van Amsterdam, Amsterdam, The Netherlands.

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

de Rooy, RLP; Halbertsma, FJ; Struijs, EA; van Spronsen, FJ; Lunsing, RJ; Schippers, HM; van Hasselt, PM; Plecko, B; Wohlrab, G; Whalen, S; Benoist, JF; Valence, S; Mills, PB; Bok, LA

de Rooy, R L P, Halbertsma, F J, Struijs, E A, van Spronsen, F J, Lunsing, R J, Schippers, H M, van Hasselt, P M, Plecko, B, Wohlrab, G, Whalen, S, Benoist, J F, Valence, S, Mills, P B & Bok, L A 2018, 'Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?', European Journal of Paediatric Neurology, vol. 22, no. 4, pp. 662-666. https://doi.org/10.1016/j.ejpn.2018.03.009

Asbreuk MABC; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit, the Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, the Netherlands.; Medicine for Society, Platform at Amsterdam UMC location University of Amsterdam, the Netherlands.; Schoenmakers DH; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit, the Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, the Netherlands.; Medicine for Society, Platform at Amsterdam UMC location University of Amsterdam, the Netherlands.; Adang LA; Children's Hospital of Philadelphia, PA.; Department of Neurology, University of Pennsylvania, Philadelphia.; Beerepoot S; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit, the Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Bergner C; Leukodystrophy Center, Department of Neurology, University Hospital Leipzig, Germany.; Bley A; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Boelens JJ; Department of Pediatrics, Stem Cell Transplant and Cellular Therapies, Memorial Sloan Kettering Cancer Center, New York, NY.; Bugiani M; Department of Paediatrics/Child Neurology, VU University Medical Centre, Amsterdam Neuroscience, the Netherlands.; Department of Pathology, VU University Medical Centre, Amsterdam Neuroscience, the Netherlands.; Calbi V; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.; Pediatric Immuno-Hematology Unit, IRCCS Ospedale San Raffaele Milan, Italy.; García-Cazorla À; Neurometabolic Unit, Neurology Department, Hospital Sant Joan de D'eu, Barcelona, Spain.; Eklund EA; Pediatrics, Clinical Sciences, Lund University, Sweden.; Fumagalli F; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.; Pediatric Immuno-Hematology Unit, IRCCS Ospedale San Raffaele Milan, Italy.; Unit of Neurology, IRCCS Ospedale San Raffaele Milan, Italy.; Grønborg SW; Center for Inherited Metabolic Diseases, Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Denmark.; Groeschel S; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tübingen, University Hospital Tübingen, Germany.; Van Hasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, the Netherlands.; Hollak CEM; Medicine for Society, Platform at Amsterdam UMC location University of Amsterdam, the Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC location University of Amsterdam, the Netherlands.; Jones SA; Genomic Medicine, Manchester University NHS FT, United Kingdom.; de Koning TJ; Pediatrics, Clinical Sciences, Lund University, Sweden.; Department of Pediatrics, Lund University, Sweden.; Department of Neurology and Genetics, University of Groningen and University of Medical Center Groningen, the Netherlands.; van Kuilenburg ABP; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Gastroenterology & Metabolism, the Netherlands.; Laugwitz L; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, Germany.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Germany.; Lindemans C; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Pediatric Hematopoietic Stem Cell Transplantation, UMC Utrecht and Princess Maxima Center, the Netherlands.; Regenerative Medicine Institute, University Medical Center Utrecht, the Netherlands.; Mochel F; Reference Center for Adult Leukodystrophy, Department of Medical Genetics, Sorbonne University, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, France.; Øberg A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Norway.; Ram D; Department of Pediatric Neurology, Royal Manchester Children's Hospital, United Kingdom.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Sevin C; Reference Center for Leukodystrophies, Pediatric Neurology Department, Hôpital Bicêtre, Le Kremlin Bicêtre, France.; Sinha J; Department of Pediatric Neurology, Center of Neurosciences, Narayana Hospital, RN Tagore Hospital, Kolkata, India.; Vaz FM; Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine and Pediatrics, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, the Netherlands.; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, the Netherlands; and.; Zerem A; Pediatric Neurology Institute, Leukodystrophy Center, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv University, Israel.; Wolf NI; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit, the Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, the Netherlands.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Sainsbury SG; Department of Metabolic Disease, Wilhelmina Kinderziekenhuis Utrecht, University Medical Centre Utrecht, Utrecht, the Netherlands.; van den Broek T; Center for Translational Immunology, Wilhelmina Kinderziekenhuis Utrecht, University Medical Centre Utrecht, Utrecht, the Netherlands.; van Hasselt PM; Department of Metabolic Disease, Wilhelmina Kinderziekenhuis Utrecht, University Medical Centre Utrecht, Utrecht, the Netherlands. Electronic address: p.vanhasselt@umcutrecht.nl.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Hoytema van Konijnenburg EMM; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands.; Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam the Netherlands.; Frenkel J; Department of Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands.; van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht 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

Schoenmakers DH; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Medicine for Society, Platform at Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands.; Asbreuk MABC; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Medicine for Society, Platform at Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands.; Martin T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; Datema M; Department of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands.; Beerepoot S; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Inbar-Feigenberg M; The Hospital for Sick Children, 555 University Avenue, Division of Clinical & Metabolic Genetics, Toronto, Ontario, Canada, M5G 1X8.; Groeschel S; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tübingen, University Hospital Tübingen, 72016, Tübingen, Germany.; Kehrer C; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tübingen, University Hospital Tübingen, 72016, Tübingen, Germany.; Øberg A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Norway.; Sevin C; Reference Center for Leukodystrophies, Pediatric Neurology Department, Hôpital Bicêtre, Le Kremlin Bicêtre, France.; Fumagalli F; Pediatric Immuno-Hematology Unit, Ospedale San Raffaele Milan, Italy; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy; Unit of Neurology, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Bergner CG; Leukodystrophy Center, Department of Neurology, University Hospital Leipzig, Germany.; Vieira P; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, 90029, Oulu, Finland; Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014, Oulu, Finland.; Bley A; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Uusimaa J; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, 90029, Oulu, Finland; Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014, Oulu, Finland.; Horn MA; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Brožová K; Department of Pediatric Neurology, Thomayer University Hospital, Prague, Czech Republic; Third Medical Faculty, Charles University, Prague, Czech Republic.; Stögmann E; Department of Clinical Neurology, Medical University of Vienna, 1090, Vienna, Austria.; Pichler H; Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University of Vienna, Austria.; Lüftinger R; Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University of Vienna, Austria.; Eklund EA; Pediatrics, Clinical Sciences, Lund University, Lund, Sweden.; Mochel F; Reference Center for Adult Leukodystrophy, Department of Medical Genetics Sorbonne University, Paris Brain Institute, La Pitié-Salpêtrière University Hospital, Paris, France.; Adang LA; Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA.; Laugwitz L; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tübingen, University Hospital Tübingen, 72016, Tübingen, Germany.; Boelens JJ; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, the Netherlands; Department of Pediatrics, Stem Cell Transplant and Cellular Therapies, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Calbi V; Pediatric Immuno-Hematology Unit, Ospedale San Raffaele Milan, Italy; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy.; Darling A; Metabolic Unit, Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; García-Cazorla Á; Metabolic Unit, Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Grønborg SW; Center for Inherited Metabolic Diseases, Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Lindemans CA; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Pediatric Hematopoietic Stem Cell Transplantation, UMC Utrecht and Princess Maxima Center, the Netherlands; Regenerative Medicine Institute, University Medical Center Utrecht, Utrecht, the Netherlands.; van Hasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, the Netherlands.; Hollak CEM; Medicine for Society, Platform at Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands; Department of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands.; de Koning TJ; Pediatrics, Department of Clinical Sciences, Lund University, Lund, Sweden; Department of Neurology and Genetics, University of Groningen and University of Medical Center Groningen, Groningen, the Netherlands.; Ram D; Department of Pediatric Neurology, Royal Manchester Children's Hospital, Manchester, UK.; Dekker H; VKS, Dutch Patient Organization for Metabolic Diseases, Zwolle, the Netherlands; United for Metabolic Diseases (UMD), the Netherlands.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Zerem A; Pediatric Neurology Institute, Leukodystrophy Center, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Graessner H; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; Wolf NI; Department of Child Neurology, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Amsterdam Neuroscience, Amsterdam UMC, Vrije Universiteit, Amsterdam, the Netherlands. Electronic address: n.wolf@amsterdamumc.nl.

Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Muffels IJJ; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; Carter T; Department of Biological Sciences, College of Natural Sciences and Mathematics, Denver, CO, USA.; Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, Flensburg, Germany.; Vastert SJ; Department of Pediatric Rheumatology and Immunology and Center for Translational Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; Verrijn Stuart AA; Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; Blank AC; Department of Pediatric Cardiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; Garde A; Centre de Génétique et Centre de Référence Maladies Rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.; van der Zwaag B; Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; De Lange IM; Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; Giltay JC; Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; van Gassen KLI; Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; Koop K; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; Asensio CS; Department of Biological Sciences, College of Natural Sciences and Mathematics, Denver, CO, USA.; van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.

Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE

Hoytema van Konijnenburg EMM; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Centre Utrecht, the Netherlands.; On Behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.; Rohof J; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Centre Utrecht, the Netherlands.; Kok G; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Centre Utrecht, the Netherlands.; On Behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.; van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Centre Utrecht, the Netherlands.; On Behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.; van Karnebeek CD; On Behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Department of Pediatrics and Human Genetics, Amsterdam UMC, the Netherlands.; Muffels IJJ; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Centre Utrecht, the Netherlands.; On Behalf of United for Metabolic Diseases, Amsterdam, the Netherlands.; Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Centre Utrecht, the Netherlands.; On Behalf of United for Metabolic Diseases, 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