학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 148건 | 목록 1~10
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Burlina AB; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health University Hospital of Padua Padua Italy.; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health University of Padua Padua Italy.; Burlina AP; Neurology Unit St Bassiano Hospital Bassano del Grappa Italy.; Mignani R; Nephrology and Dialysis Department Infermi Hospital Rimini Italy.; Cazzorla C; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health University Hospital of Padua Padua Italy.; Gueraldi D; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health University Hospital of Padua Padua Italy.; Puma A; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health University Hospital of Padua Padua Italy.; Loro C; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health University Hospital of Padua Padua Italy.; Baumgartner MR; Division of Metabolism and Children's Research Center University Children's Hospital Zurich, University of Zurich Zurich Switzerland.; Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health University Hospital of Padua Padua Italy.; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health University of Padua Padua Italy.
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
Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy.; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University of Padua, 35128 Padua, Italy.; Cazzorla C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy.; Gueraldi D; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy.; Puma A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy.; Loro C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy.; Porcù E; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy.; Stornaiuolo M; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy.; Miglioranza P; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy.; Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, 35128 Padua, Italy.; Burlina AP; Neurology Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy.; Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy.; Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University of Padua, 35128 Padua, Italy.
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE
Academic Journal
Maissen-Abgottspon S; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Muri R; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Support Center for Advanced Neuroimaging (SCAN), Institute of Diagnostic and Interventional Neuroradiology, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.; Hochuli M; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Reismann P; Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary.; Barta AG; Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary.; Alptekin IM; Faculty of Health Sciences, Department of Nutrition and Dietetics, Ankara University, Ankara, Turkey.; Hermida-Ameijeiras Á; Division of Internal Medicine, European Reference Network for Hereditary Metabolic Disorders (MetabERN), University Clinical Hospital, Santiago de Compostela, Spain.; Burlina AP; Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy.; Burlina AB; Division of Inborn Metabolic Diseases, Department of Pediatrics, University Hospital, Padua, Italy.; Cazzorla C; Division of Inborn Metabolic Diseases, Department of Pediatrics, University Hospital, Padua, Italy.; Carretta J; Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy.; Trepp R; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Everts R; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. regula.everts@insel.ch.; Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. regula.everts@insel.ch.
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
Report
Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.; Gueraldi D; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.; Puma A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.; Commone A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.; Loro C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.; Cazzorla C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.; Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.; Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE
Report
Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, Padua University Hospital, Padua, Italy.; Cazzorla C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, Padua University Hospital, Padua, Italy.; Gueraldi D; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, Padua University Hospital, Padua, Italy.; Loro C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, Padua University Hospital, Padua, Italy.; Massa P; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, Padua University Hospital, Padua, Italy.; Puma A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, Padua University Hospital, Padua, Italy.; Cananzi M; Pediatric Gastroenterology, Department of Women's and Children's Health, Padua University, Padua, Italy.; Salviati L; Clinical Genetics Unit, Department of Women and Children's Health, Padua University, Padua, Italy.; Burlina AP; Neurology Unit, St Bassiano Hospital, Bassano del Grappa, Italy.; Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, Padua University Hospital, Padua, Italy.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.; Burlina AP; Neurology Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy.; Commone A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.; Gueraldi D; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.; Puma A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.; Porcù E; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.; Stornaiuolo M; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.; Cazzorla C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.; Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE
Report
Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.; Rizzardi C; Division of Paediatric Cardiology, Department of Women's and Children's Health, University Hospital Padua, 35128 Padua, Italy.; Commone A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.; Gueraldi D; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.; Maines E; Division of Pediatrics, S. Chiara General Hospital, 38122 Trento, Italy.; Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, and Myology Center, University of Padua, 35128 Padua, Italy.; Di Salvo G; Division of Paediatric Cardiology, Department of Women's and Children's Health, University Hospital Padua, 35128 Padua, Italy.; Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE
Academic Journal
Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.; Pijnappel PWWM; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, the Netherlands.; Burlina AP; Neurology Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy.; In 't Groen SLM; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, the Netherlands.; Gueraldi D; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.; Cazzorla C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.; Maines E; Division of Pediatrics, S. Chiara General Hospital, Trento, Italy.; Polo G; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.; Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, and Myology Center, University of Padova, Padova, Italy.; Di Salvo G; Division of Paediatric Cardiology, Department of Women's and Children's Health, University Hospital Padua, Padua, Italy.; Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Academic Journal
Derks B; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6229 HX, Maastricht, The Netherlands.; GROW, Maastricht University, Maastricht, The Netherlands.; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; UMD: United for Metabolic Diseases Member, Amsterdam, The Netherlands.; Demirbas D; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, 3 Blackfan Circle, Center for Life Science Building, Suite 14070, Boston, MA, 02115, USA.; Arantes RR; Special Service of Medical Genetics, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Banford S; South Eastern Health and Social Care Trust, Downpatrick, BT30 6RL, UK.; Burlina AB; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Division of Inherited Metabolic Diseases, University Hospital, Via Orus 2/B, 35128, Padua, Italy.; Cabrera A; Nutrition Department, Hospital de Niños V.J. Vilela, Sante Fe, Rosario, Argentina.; Chiesa A; Department of Endocrinology, Hospital de Niños Ricardo Gutièrrez, Buenos Aires, Argentina.; Couce ML; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Metabolic Unit, IDIS, Department of Neonatology, University Clinical Hospital of Santiago de Compostela. Calle Choupana, s/n, 15706, Santiago de Compostela, Spain.; Dionisi-Vici C; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Division of Metabolism, Bambino Gesu Children's Research Hospital IRCCS, Piazza S Onofrio 4, 00165, Roma, Italy.; Gautschi M; Division of Paediatric Endocrinology and Metabolism, Department of Paediatrics, University Hospital Bern, Inselspital, Freiburgstrasse 15, CH-3010, Bern, Switzerland.; Grünewald S; Metabolic Medicine Department, NIHR Biomedical Research Center (BRC), Institute for Child Health, Great Ormond Street Hospital, University College London, London, UK.; Morava E; Department of Clinical Genomics and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Möslinger D; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.; Scholl-Bürgi S; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.; Skouma A; Institute of Child Health, Aghia Sophia Children's Hospital, Thivon & Papadiamantopoulou, 11527, Athens, Greece.; Stepien KM; Adult Inherited Metabolic Disorders Department, Salford Royal NHS Foundation Trust, Stott Lane, Salford, M6 8HD, Greater Manchester, UK.; Timson DJ; School of Pharmacy and Biomolecular Sciences, University of Brighton, Huxley Building, Lewes Road, Brighton, BN2 4GJ, UK.; Berry GT; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, 3 Blackfan Circle, Center for Life Science Building, Suite 14070, Boston, MA, 02115, USA.; Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6229 HX, Maastricht, The Netherlands. estela.rubio@mumc.nl.; GROW, Maastricht University, Maastricht, The Netherlands. estela.rubio@mumc.nl.; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy. estela.rubio@mumc.nl.; UMD: United for Metabolic Diseases Member, Amsterdam, The Netherlands. estela.rubio@mumc.nl.
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
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