학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 78건 | 목록 1~10
Report
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, 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
Manti F; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, University of Rome La Sapienza, Rome, Italy.; Caviglia S; Unit of Clinical Psychology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Cazzorla C; Division of Inborn Metabolic Diseases, Department of Pediatrics, University Hospital, Padua, Italy.; Dicintio A; Department of Metabolic Diseases and Clinical Genetics, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale Policlinico, 70126, Bari, Italy.; Pilotto A; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Burlina AP; Neurology Unit, St. Bassiano Hospital, Bassano del Grappa, Italy. alessandro.burlina@aulss7.veneto.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: PubMed not MEDLINE; MEDLINE
Academic Journal
Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address: rob.hopkin@cchmc.org.; Cabrera GH; Centro Médico Santa Maria de la Salud, Buenos Aires, Argentina.; Jefferies JL; The Cardiovascular Institute, University of Tennessee Health Science Center, Memphis, TN, USA.; Yang M; Formerly Sanofi, Cambridge, MA, USA.; Ponce E; Sanofi, Cambridge, MA, USA.; Brand E; Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Münster, Münster, Germany.; Feldt-Rasmussen U; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, and Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark.; Germain DP; French Referral Center for Fabry disease, Division of Medical Genetics, University of Versailles and APHP - Paris Saclay University, Garches, France.; Guffon N; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Bron Cedex, France.; Jovanovic A; Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.; Kantola I; Division of Medicine, Turku University Hospital, University of Turku, Turku, Finland.; Karaa A; Department of Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Martins AM; Reference Center for Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo, Brazil.; Tøndel C; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway, and Department of Clinical Science, University of Bergen, Bergen, Norway.; Wilcox WR; Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Yoo HW; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Burlina AP; Neurology Unit, St Bassiano Hospital, Bassano del Grappa, Italy.; Mauer M; Departments of Pediatrics and Medicine, University of Minnesota, Minneapolis, MN, USA.
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
Academic Journal
Manti F; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, University of Rome La Sapienza, Rome, Italy.; Caviglia S; Unit of Clinical Psychology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Cazzorla C; Division of Inborn Metabolic Diseases, Department of Pediatrics, University Hospital, Padua, Italy.; Dicintio A; Department of Metabolic Diseases and Clinical Genetics, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale Policlinico, 70126, Bari, Italy.; Pilotto A; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Burlina AP; Neurology Unit, St. Bassiano Hospital, Bassano del Grappa, Italy. alessandro.burlina@aulss7.veneto.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
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
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