학술논문
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'학술논문'
에서 검색결과 674건 | 목록
1~20
Academic Journal
Vaz FM; Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Ferdinandusse S; Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Salomons GS; Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Wanders RJA; Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, 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
Academic Journal
Wanders RJA; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam, The Netherlands.; Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam, The Netherlands.; Groothoff JW; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam, The Netherlands.; Deesker LJ; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam, The Netherlands.; Salido E; Hospital Universitario de Canarias, Centre for Biomedical Research on rare Diseases (CIBERER), Universidad La Laguna, Tenerife, Spain.; Garrelfs SF; Department of Pediatric Nephrology, Emma Children's Hospital, 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
Editorial & Opinion
Waterham HR; Department of 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.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Wanders RJA; Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Wevers RA; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Human Genetics, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; van Karnebeek CD; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Departments of Pediatrics and Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, 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; In Process
Academic Journal
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
Academic Journal
Bleeker, JC; Visser, G; Clarke, K; Ferdinandusse, S; de Haan, FH; Houtkooper, RH; IJlst, L; Kok, IL; Langeveld, M; van der Pol, WL; de Sain-van der Velden, MGM; Sibeijn-Kuiper, A; Takken, T; Wanders, RJA; van Weeghel, M; Wijburg, FA; van der Woude, LH; Wüst, RCI; Cox, PJ; Jeneson, JAL
J Inherit Metab Dis
Academic Journal
Buijs MJN; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Balfoort BM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Brands MM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Ten Asbroek ALMA; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Boon CJF; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Leiden University Medical Centre, Leiden, The Netherlands.; Diederen RMH; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Timmer C; Department Endocrinology and Metabolism Amsterdam UMC, Department of Nutrition and Dietetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Wagenmakers MAEM; Department of Internal Medicine, Centre for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology and Metabolism Institute, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences Institute, Amsterdam, The Netherlands.; van Karnebeek CD; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Bergen AA; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands.
Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-3768 (Electronic) Linking ISSN: 1755375X NLM ISO Abbreviation: Acta Ophthalmol Subsets: MEDLINE
Academic Journal
Horcas-Nieto JM; Department of Pediatrics, Center for Liver, Digestive and Metabolic Diseases, University of Groningen, University Medical Center Groningen, the Netherlands.; Rios-Ocampo WA; Department of Pediatrics, Center for Liver, Digestive and Metabolic Diseases, University of Groningen, University Medical Center Groningen, the Netherlands.; Langelaar-Makkinje M; Department of Pediatrics, Center for Liver, Digestive and Metabolic Diseases, University of Groningen, University Medical Center Groningen, the Netherlands.; de Boer R; Molecular Cell Biology, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Groningen, the Netherlands.; Gerding A; Department of Pediatrics, Center for Liver, Digestive and Metabolic Diseases, University of Groningen, University Medical Center Groningen, the Netherlands; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Chornyi S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC Location AMC, University of Amsterdam, Amsterdam, the Netherlands.; Martini IA; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Wolters JC; Department of Pediatrics, Center for Liver, Digestive and Metabolic Diseases, University of Groningen, University Medical Center Groningen, the Netherlands; Interfaculty Mass Spectrometry Center, University of Groningen, University Medical Center Groningen, the Netherlands.; Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC Location AMC, University of Amsterdam, Amsterdam, the Netherlands.; Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam UMC Location AMC, University of Amsterdam, Amsterdam, the Netherlands.; Van der Klei IJ; Molecular Cell Biology, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Groningen, the Netherlands.; Bandsma RHJ; Department of Pediatrics, Center for Liver, Digestive and Metabolic Diseases, University of Groningen, University Medical Center Groningen, the Netherlands; Translational Medicine Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, ON, Canada; Department of Nutritional Sciences, Faculty of Medicine, University of Toronto, Toronto, ON, Canada; Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, Toronto, ON, Canada.; Jonker JW; Department of Pediatrics, Center for Liver, Digestive and Metabolic Diseases, University of Groningen, University Medical Center Groningen, the Netherlands.; Bakker BM; Department of Pediatrics, Center for Liver, Digestive and Metabolic Diseases, University of Groningen, University Medical Center Groningen, the Netherlands. Electronic address: b.m.bakker01@umcg.nl.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE
Academic Journal
Karuntu JS; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.; Almushattat H; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.; Nguyen XT; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.; Plomp AS; Department of Human Genetics, Amsterdam Reproduction & Development, Amsterdam UMC, University of Amsterdam, the Netherlands.; Wanders RJA; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam, the Netherlands; Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam, the Netherlands.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; van Schooneveld MJ; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, the Netherlands; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, the Netherlands.; Schalij-Delfos NE; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.; Brands MM; 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.; 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, PA, USA.; van Karnebeek CDM; 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.; Bergen AA; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; van Genderen MM; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, the Netherlands; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, the Netherlands.; Boon CJF; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: camiel.boon@amsterdamumc.nl.
Publisher: Pergamon Country of Publication: England NLM ID: 9431859 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-1635 (Electronic) Linking ISSN: 13509462 NLM ISO Abbreviation: Prog Retin Eye Res Subsets: MEDLINE
Academic Journal
Huffnagel, IC; van de Beek, M-C; Showers, AL; Orsini, JJ; Klouwer, FCC; Dijkstra, IME; Schielen, PC; van Lenthe, H; Wanders, RJA; Vaz, fm; Morrissey, MA; Engelen, M; Kemp, S
Molecular Genetics and Metabolism. 122:209-215
Academic Journal
Garrelfs SF; Departments of Pediatrics, Emma Children's Hospital, Section Pediatric Nephrology & Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, The Netherlands.; Chornyi S; Departments of Pediatrics, Emma Children's Hospital, Section Pediatric Nephrology & Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, The Netherlands.; Te Brinke H; Departments of Pediatrics, Emma Children's Hospital, Section Pediatric Nephrology & Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, The Netherlands.; Ruiter J; Departments of Pediatrics, Emma Children's Hospital, Section Pediatric Nephrology & Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, The Netherlands.; Groothoff J; Departments of Pediatrics, Emma Children's Hospital, Section Pediatric Nephrology & Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, The Netherlands.; Wanders RJA; Departments of Pediatrics, Emma Children's Hospital, Section Pediatric Nephrology & Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, 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
Academic Journal
Bisschoff M; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.; Dercksen M; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Schoonen M; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Vorster BC; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.; van der Watt G; Division of Chemical Pathology, National Health Laboratory Services, University of Cape Town, Cape Town, South Africa.; Spencer C; Division of Human Genetics, Department of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.; Naidu K; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa.; Henning F; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa.; Meldau S; Division of Chemical Pathology, National Health Laboratory Services, University of Cape Town, Cape Town, South Africa.; McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Patel K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Fassad MR; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Vandrovcova J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Wanders RJA; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.; van der Westhuizen FH; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa. Francois.VanDerWesthuizen@nwu.ac.za.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University - Hospital of Padova, Padua, Italy.; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University of Padua, Padua, Italy.; Gueraldi D; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University - Hospital of Padova, Padua, Italy.; Puma A; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University - Hospital of Padova, Padua, Italy.; Commone A; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University - Hospital of Padova, Padua, Italy.; Cazzorla C; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University - Hospital of Padova, Padua, Italy.; Loro C; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University - Hospital of Padova, Padua, Italy.; Porcù E; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University - Hospital of Padova, Padua, Italy.; Stornaiuolo M; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University - Hospital of Padova, Padua, Italy.; Miglioranza P; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University - Hospital of Padova, Padua, Italy.; Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, and Myology Center, University of Padova, Padua, Italy.; Wanders RJA; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Burlina A; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University - Hospital of Padova, Padua, Italy. alberto.burlina@unipd.it.; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University of Padua, Padua, Italy. alberto.burlina@unipd.it.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Psychiatry Research. 207:1-12
Academic Journal
Abe Y; Faculty of Arts and Science, Kyushu University, Fukuoka, Japan.; Wanders RJA; Departments of Pediatrics, EMMA Children's Hospital & Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, The Netherlands.; Waterham HR; Departments of Pediatrics, EMMA Children's Hospital & Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, The Netherlands.; Mandel H; Galilee Medical Center, Institute of Human Genetics, Nahariya, Israel.; Falik-Zaccai TC; Galilee Medical Center, Institute of Human Genetics, Nahariya, Israel.; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.; Ishihara N; Department of Biological Sciences, Osaka University, Osaka, Japan.; Fujiki Y; Medical Institute of Bioregulation, Institute of Rheological Functions of Food-Kyushu University Collaboration Program, Kyushu University, Fukuoka, Japan.; Graduate School of Science, University of Hyogo, Hyogo, Japan.
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
Academic Journal
GHIRRI, PAOLO; Vuerich M; Ferdinandusse S; Waterham HR; GUZZETTA, ANDREA; Bianchi MC; BOLDRINI, ANTONIO; Wanders RJA
Pediatrics International. 53:583-587
Academic Journal
Derks, TGJ; Boer, TS; van Assen, A; Bos, T; de Ruiter, J; Waterham, HR; Niezen-Koning, KE; Wanders, RJA; Rondeel, JMM; Loeber, JGrivm; ten Kate, LP; Smit, GPA; Reijngoud, DJ
Derks, T G J, Boer, T S, van Assen, A, Bos, T, de Ruiter, J, Waterham, H R, Niezen-Koning, K E, Wanders , R J A, Rondeel, J M M, Loeber, J G, ten Kate, L P, Smit, G P A & Reijngoud, D J 2008, 'Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency', Journal of Inherited Metabolic Disease, vol. 31, no. 1, pp. 88-96. https://doi.org/10.1007/s10545-007-0492-3
Academic Journal
DI ROSA, GABRIELLA; DEODATO F; LOUPATTY FJ; RIZZO C; CARROZZO R; SANTORELLI FM; BOENZI S; D'AMICO A; TOZZI G; BERTINI E; MAIORANA A; WANDERS RJA; DIONISI VICI C.
Journal of Inherited Metabolic Disease. 29:546-550
Academic Journal
Wanders RJA; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Baes M; Laboratory of Cell Metabolism, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium.; Ribeiro D; Institute of Biomedicine (iBiMED) and Department of Medical Sciences, University of Aveiro, Aveiro, Portugal.; Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Waterham HR; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.
Publisher: American Physiological Society Country of Publication: United States NLM ID: 0231714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1210 (Electronic) Linking ISSN: 00319333 NLM ISO Abbreviation: Physiol Rev Subsets: MEDLINE
Academic Journal
Molecular Genetics and Metabolism. 86:344-352
Academic Journal
Topcu, M; Jobard, F; Halliez, S; Coskun, T; Yalcinkayal, C; Gerceker, FO; Wanders, RJA; Prud'homme, JF; Lathrop, M; Ozguc, M; Fischer, J
Human Molecular Genetics. 13:2803-2811
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[검색어] WANDERS, RJA
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