부산대학교 도서관

Margherita Bertuzzi; Gareth J. Howell; Darren D. Thomson; Rachael Fortune-Grant; Anna Möslinger; Patrick Dancer; Norman Van Rhijn; Natasha Motsi; Alice Codling; Elaine M. Bignell

iScience, Vol 27, Iss 6, Pp 109939- (2024)

Bianca Panis; E. Naomi Vos; Ivo Barić; Annet M. Bosch; Martijn C. G. J. Brouwers; Alberto Burlina; David Cassiman; David J. Coman; María L. Couce; Anibh M. Das; Didem Demirbas; Aurélie Empain; Matthias Gautschi; Olga Grafakou; Stephanie Grunewald; Sandra D. K. Kingma; Ina Knerr; Elisa Leão-Teles; Dorothea Möslinger; Elaine Murphy; Katrin Õunap; Adriana Pané; Sabrina Paci; Rossella Parini; Isabel A. Rivera; Sabine Scholl-Bürgi; Ida V. D. Schwartz; Triantafyllia Sdogou; Loai A. Shakerdi; Anastasia Skouma; Karolina M. Stepien; Eileen P. Treacy; Susan Waisbren; Gerard T. Berry; M. Estela Rubio-Gozalbo

Frontiers in Genetics, Vol 15 (2024)

Truninger MI; Division of Metabolism, Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, Zürich, 8032, Switzerland.; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich, 8032, Switzerland.; Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Binzmühlestrasse 14, Box 8, Zürich, 8050, Switzerland.; Werner H; Division of Metabolism, Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, Zürich, 8032, Switzerland.; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich, 8032, Switzerland.; Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Binzmühlestrasse 14, Box 8, Zürich, 8050, Switzerland.; Landolt MA; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich, 8032, Switzerland.; Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Binzmühlestrasse 14, Box 8, Zürich, 8050, Switzerland.; Hahn A; Department of Child Neurology, Justus-Liebig-University Gießen, Gießen, Germany.; Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.; Lagler FB; Institute for Inherited Metabolic Diseases, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.; Möslinger D; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Pfrimmer C; Department of Child Neurology, Justus-Liebig-University Gießen, Gießen, Germany.; Rohrbach M; Division of Metabolism, Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, Zürich, 8032, Switzerland.; Huemer M; Division of Metabolism, Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, Zürich, 8032, Switzerland. martina.huemer@kispi.uzh.ch.; Department of Paediatrics, LKH Bregenz, Bregenz, 6900, Austria. martina.huemer@kispi.uzh.ch.; Competence Area Healthcare and Nursing, Vorarlberg University of Applied Sciences, Hochschulstr.1, Dornbirn, 6850, Austria. martina.huemer@kispi.uzh.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

M. E. Rubio-Gozalbo; M. Haskovic; A. M. Bosch; B. Burnyte; A. I. Coelho; D. Cassiman; M. L. Couce; C. Dawson; D. Demirbas; T. Derks; F. Eyskens; M. T. Forga; S. Grunewald; J. Häberle; M. Hochuli; A. Hubert; H. H. Huidekoper; P. Janeiro; J. Kotzka; I. Knerr; P. Labrune; Y. E. Landau; J. G. Langendonk; D. Möslinger; D. Müller-Wieland; E. Murphy; K. Õunap; D. Ramadza; I. A. Rivera; S. Scholl-Buergi; K. M. Stepien; A. Thijs; C. Tran; R. Vara; G. Visser; R. Vos; M. de Vries; S. E. Waisbren; M. M. Welsink-Karssies; S. B. Wortmann; M. Gautschi; E. P. Treacy; G. T. Berry

Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)

Truninger MI; Division of Metabolism, Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Division of Child and Adolescent Health Psychology, Institute of Psychology, University of Zurich, Zürich, Switzerland.; Werner H; Division of Metabolism, Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Division of Child and Adolescent Health Psychology, Institute of Psychology, University of Zurich, Zürich, Switzerland.; Landolt MA; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Division of Child and Adolescent Health Psychology, Institute of Psychology, University of Zurich, Zürich, Switzerland.; Hahn A; Department of Child Neurology, Justus-Liebig-University Gießen, Gießen, Germany.; Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.; Lagler FB; Institute for Inherited Metabolic Diseases and Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.; Möslinger D; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Pfrimmer C; Department of Child Neurology, Justus-Liebig-University Gießen, Gießen, Germany.; Rohrbach M; Division of Metabolism, Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Huemer M; Division of Metabolism, Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Department of Paediatrics, LKH Bregenz, Bregenz, Austria.; Competence Area Healthcare and Nursing, Vorarlberg University of Applied Sciences, Dornbirn, Austria.

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

Beghini M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Pichler M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Tinnefeld FC; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Metz M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Möslinger D; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Konstantopoulou V; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Spenger J; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Kautzky-Willer A; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Frommlet F; Center for Medical Data Science (Institute of Medical Statistics), Medical University of Vienna, Spitalgasse 23, 1090 Vienna, Austria.; Scherer T; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Hufgard-Leitner M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.

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

Panis B; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Vos EN; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.; Barić I; Department of Pediatrics, University Hospital Center Zagreb, Croatia, and School of Medicine, University of Zagreb, Zagreb, Croatia.; Bosch AM; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Pediatrics, Division of Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, Netherlands.; Brouwers MCGJ; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Centre, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, Netherlands.; Burlina A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, Padova, Italy.; Cassiman D; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Faculty of Medicine, KU Leuven, Leuven, Belgium.; Coman DJ; Queensland Children's Hospital, Children's Health Queensland, Brisbane, QLD, Australia.; Couce ML; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Pediatrics, Diagnosis and Treatment Unit of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, CIBERER, RICORS Instituto Salud Carlos III, Santiago de Compostela, Spain.; Das AM; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics, Pediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany.; Demirbas D; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States.; Empain A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics, Metabolic and Nutrition Unit, Division of Endocrinology, Diabetes and Metabolism, University Hospital for Children Queen Fabiola, Bruxelles, Belgium.; Gautschi M; Department of Paediatrics, Institute of Clinical Chemistry, Inselspital, Bern University Hospital, Swiss Reference Centre for Inborn Errors of Metabolism, Site Bern, Division of Pediatric Endocrinology, Diabetes and Metabolism, University of Bern, Bern, Switzerland.; Grafakou O; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; IEM Clinic, Arch Makarios III Hospital, Nicosia, Cyprus.; Grunewald S; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, United Kingdom.; Kingma SDK; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Antwerp, Belgium.; Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, University College Dublin, Dublin, Ireland.; Leão-Teles E; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário São João, Porto, Portugal.; Möslinger D; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery (NHNN), London, United Kingdom.; Õunap K; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Genetics and Personalized Medicine Clinic, Faculty of Medicine, Tartu University Hospital, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Pané A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Endocrinology and Nutrition Department, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de la Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Paci S; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Inborn Errors of Metabolism, Clinical Department of Pediatrics, San Paolo Hospital - ASST Santi Paolo e Carlo, University of Milan, Milan, Italy.; Parini R; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Rare Diseases Unit, Department of Internal Medicine, San Gerardo Hospital IRCCS, Monza, Italy.; Rivera IA; iMed.ULisboa-Instituto de Investigação do Medicamento, Faculdade de Farmácia, Universidade de Lisboa, Lisboa, Portugal.; Scholl-Bürgi S; 29 Department of Child and Adolescent Health, Division of Pediatrics I-Inherited Metabolic Disorders, Medical University Innsbruck, Innsbruck, Austria.; Schwartz IVD; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.; Sdogou T; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Newborn Screening Department, Institute of Child Health, Athens, Greece.; Shakerdi LA; Adult Metabolics/Genetics, National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin, Ireland.; Skouma A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Newborn Screening Department, Institute of Child Health, Athens, Greece.; Stepien KM; Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, Salford, United Kingdom.; Treacy EP; School of Medicine, Trinity College Dublin, National Rare Diseases Office, Mater Misericordiae University Hospital, Dublin, Ireland.; Waisbren S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States.; Berry GT; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States.; Rubio-Gozalbo ME; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Löscher, W. N.; Huemer, M.; Stulnig, T. M.; Simschitz, P.; Iglseder, S.; Eggers, C.; Moser, H.; Möslinger, D.; Freilinger, M.; Lagler, F.; Grinzinger, S.; Reichhardt, M.; Bittner, R. E.; Schmidt, W. M.; Lex, U.; Brunner-Krainz, M.; Quasthoff, S.; Wanschitz, J. V.

Journal of Neurology. :1-6

Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnyte, B.; Coelho, A. I.; Cassiman, D.; Couce, M. L.; Dawson, C.; Demirbas, D.; Derks, T.; Eyskens, F.; Forga, M. T.; Grunewald, S.; Häberle, J.; Hochuli, M.; Hubert, A.; Huidekoper, H. H.; Janeiro, P.; Kotzka, J.; Knerr, I.; Labrune, P.; Landau, Y. E.; Langendonk, J. G.; Möslinger, D.; Müller-Wieland, D.; Murphy, E.; Õunap, K.; Ramadza, D.; Rivera, I. A.; Scholl-Buergi, S.; Stepien, K. M.; Thijs, A.; Tran, C.; Vara, R.; Visser, G.; Vos, R.; de Vries, M.; Waisbren, S. E.; Welsink-Karssies, M. M.; Wortmann, S. B.; Gautschi, M.; Treacy, E. P.; Berry, G. T.

Orphanet Journal of Rare Diseases. 14(1)

Huemer, M.; Simma, B.; Mayr, D.; Möslinger, D.; Mühl, A.; Schmid, I.; Ulmer, H.; Bodamer, O.A.

Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 2012 35(5):817-821