Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Scholl-Bürgi, Sabine"'
Autor:
Herle M; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria., Brunner-Krainz M; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria., Karall D; Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Goeschl B; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria., Möslinger D; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria., Zobel J; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria., Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria., Scholl-Bürgi S; Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Spenger J; University Children's Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria., Wortmann SB; University Children's Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland. martina.huemer@lkhb.at.; Department of Paediatrics, Landeskrankenhaus Bregenz, Carl-Pedenz-Str. 2, 6900, Bregenz, Austria. martina.huemer@lkhb.at.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Aug 19; Vol. 16 (1), pp. 367. Date of Electronic Publication: 2021 Aug 19.
Autor:
Beghini M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria. Electronic address: marianna.beghini@meduniwien.ac.at., Resch FJ; 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, Waehringerguertel 18-20, 1090 Vienna, Austria. Electronic address: dorothea.moeslinger@meduniwien.ac.at., Konstantopoulou V; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Waehringerguertel 18-20, 1090 Vienna, Austria. Electronic address: vassiliki.konstantopoulou@meduniwien.ac.at., Karall D; Division of Inherited Metabolic Disorders, Clinic of Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria. Electronic address: Daniela.Karall@i-med.ac.at., Scholl-Bürgi S; Division of Inherited Metabolic Disorders, Clinic of Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria. Electronic address: sabine.scholl-buergi@tirol-kliniken.at., Brunner-Krainz M; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Auenbruggerplatz 34/2, 8036 Graz, Austria. Electronic address: michaela.brunner-krainz@klinikum-graz.at., Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Auenbruggerplatz 34/2, 8036 Graz, Austria. Electronic address: barbara.plecko@medunigraz.at., Spenger J; University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), 5020 Salzburg, Austria. Electronic address: j.spenger@salk.at., Kautzky-Willer A; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria. Electronic address: alexandra.kautzky-willer@meduniwien.ac.at., Scherer T; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria. Electronic address: thomas.scherer@meduniwien.ac.at., Hufgard-Leitner M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria. Electronic address: miriam.hufgard-leitner@meduniwien.ac.at.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2021 Jul; Vol. 133 (3), pp. 257-260. Date of Electronic Publication: 2021 May 11.
Autor:
Hillert A; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Clinic I, University Hospital Heidelberg, 69120 Heidelberg, Germany., Anikster Y; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Aviv University, 52621 Tel-Aviv, Israel., Belanger-Quintana A; Unidad de Enfermedades Metabolicas, Servicio de Pediatria, Hospital Ramon y Cajal, 28034 Madrid, Spain., Burlina A; Division of Inherited Metabolic Diseases, Department of Woman's and Child's Health, University Hospital, 35129 Padua, Italy., Burton BK; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Carducci C; Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy., Chiesa AE; Fundación de Endocrinología Infantil (FEI), C1425 Buenos Aires, Argentina., Christodoulou J; Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Đorđević M; Institute of Mother and Child Healthcare 'Dr. Vukan Čupić,' 11000 Belgrade, Serbia., Desviat LR; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular CSIC-UAM, Universidad Autónoma de Madrid. CIBERER, IdiPAz, 28049 Madrid, Spain., Eliyahu A; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Aviv University, 52621 Tel-Aviv, Israel., Evers RAF; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Section of Metabolic Diseases, 9712 CP Groningen, the Netherlands., Fajkusova L; Centre of Molecular Biology and Gene Therapy, University Hospital Brno, 62500 Brno, Czech Republic., Feillet F; Reference Center for Inherited Metabolic Diseases, University Hospital of Nancy, 54511 Vandoeuvre-lès-Nancy, France., Bonfim-Freitas PE; Laboratory of Inborn Errors of Metabolism, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil., Giżewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, 71-252 Szczecin, Poland., Gundorova P; Research Centre for Medical Genetics, 115522 Moscow, Russia., Karall D; Clinic of Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Kneller K; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Aviv University, 52621 Tel-Aviv, Israel., Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia., Leuzzi V; Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy., Levy HL; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Lichter-Konecki U; UPMC, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Muntau AC; University Children's Hospital, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany., Namour F; Reference Center for Inherited Metabolic Diseases, University Hospital of Nancy, 54511 Vandoeuvre-lès-Nancy, France., Oltarzewski M; Department of Screening and Metabolic Diagnostics, Institute of Mother and Child, 01-211 Warsaw, Poland., Paras A; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Perez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular CSIC-UAM, Universidad Autónoma de Madrid. CIBERER, IdiPAz, 28049 Madrid, Spain., Polak E; Comenius University, Faculty of Natural Sciences, Department of Molecular Biology, 84215 Bratislava 4, Slovak Republic., Polyakov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Porta F; Department of Pediatrics, AOU Citta' della Salute e della Scienza di Torino, 10126 Torino, Italy., Rohrbach M; Division of Metabolism, University Children's Hospital, 8032 Zürich, Switzerland., Scholl-Bürgi S; Clinic of Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Spécola N; Unidad de Metabolismo. Hospital de Niños 'Sor Ludovica' de La Plata, 1904 Buenos Aires, Argentina., Stojiljković M; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, 11000 Belgrade, Serbia., Shen N; Department of Infectious Diseases, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 2000025 Shanghai, China., Santana-da Silva LC; Laboratory of Inborn Errors of Metabolism, Institute of Biological Sciences, Federal University of Pará, Belém 66075-110, Brazil., Skouma A; Institute of Child Health, 11526 Athens, Greece., van Spronsen F; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Section of Metabolic Diseases, 9712 CP Groningen, the Netherlands., Stoppioni V; Centro Screening Neonatale Regione Marche, Azienda Ospedaliera Ospedali Riuniti Marche Nord, 61032 Fano, Italy., Thöny B; Division of Metabolism, University Children's Hospital, 8032 Zürich, Switzerland., Trefz FK; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Clinic I, University Hospital Heidelberg, 69120 Heidelberg, Germany., Vockley J; UPMC, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Yu Y; Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, 2000025 Shanghai, China., Zschocke J; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria., Hoffmann GF; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Clinic I, University Hospital Heidelberg, 69120 Heidelberg, Germany., Garbade SF; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Clinic I, University Hospital Heidelberg, 69120 Heidelberg, Germany. Electronic address: sven.garbade@med.uni-heidelberg.de., Blau N; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Clinic I, University Hospital Heidelberg, 69120 Heidelberg, Germany; Division of Metabolism, University Children's Hospital, 8032 Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Aug 06; Vol. 107 (2), pp. 234-250. Date of Electronic Publication: 2020 Jul 14.
Autor:
Opladen T; Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. Thomas.Opladen@med.uni-heidelberg.de., López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain., Cortès-Saladelafont E; Inborn errors of metabolism Unit, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Unit of Pediatric Neurology and Metabolic Disorders, Department of Pediatrics, Hospital Germans Trias i Pujol, and Faculty of Medicine, Universitat Autònoma de Barcelona, Badalona, Spain., Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, USA., Sivri HS; Department of Pediatrics, Section of Metabolism, Hacettepe University, Faculty of Medicine, 06100, Ankara, Turkey., Yildiz Y; Department of Pediatrics, Section of Metabolism, Hacettepe University, Faculty of Medicine, 06100, Ankara, Turkey., Assmann B; Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany., Kurian MA; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Leuzzi V; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Heales S; Neurometabolic Unit, National Hospital, Queen Square, London, UK., Pope S; Neurometabolic Unit, National Hospital, Queen Square, London, UK., Porta F; Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy., García-Cazorla A; Inborn errors of metabolism Unit, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Honzík T; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Pons R; First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece., Regal L; Department of Pediatric, Pediatric Neurology and Metabolism Unit, UZ Brussel, Brussels, Belgium., Goez H; Department of Pediatrics, University of Alberta Glenrose Rehabilitation Hospital, Edmonton, Canada., Artuch R; Clinical biochemistry department, Institut de Recerca Sant Joan de Déu, CIBERER and MetabERN Hospital Sant Joan de Déu, Barcelona, Spain., Hoffmann GF; Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany., Horvath G; Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada., Thöny B; Division of Metabolism, University Children's Hospital Zurich, Zürich, Switzerland., Scholl-Bürgi S; Clinic for Pediatrics I, Medical University of Innsbruck, Anichstr 35, Innsbruck, Austria., Burlina A; U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano, Padova, Italy., Verbeek MM; Departments of Neurology and Laboratory Medicine, Alzheimer Centre, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Mastrangelo M; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Friedman J; UCSD Departments of Neuroscience and Pediatrics, Rady Children's Hospital Division of Neurology; Rady Children's Institute for Genomic Medicine, San Diego, USA., Wassenberg T; Department of Pediatric, Pediatric Neurology and Metabolism Unit, UZ Brussel, Brussels, Belgium., Jeltsch K; Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany., Kulhánek J; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. Jan.Kulhanek@vfn.cz., Kuseyri Hübschmann O; Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 May 26; Vol. 15 (1), pp. 126. Date of Electronic Publication: 2020 May 26.
Autor:
Sterl E; Department of Pediatric and Adolescent Surgery, Medical University of Graz, Graz, Austria., Paul K, Paschke E, Zschocke J, Brunner-Krainz M, Windisch E, Konstantopoulou V, Möslinger D, Karall D, Scholl-Bürgi S, Sperl W, Lagler F, Plecko B
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2013 Jan; Vol. 36 (1), pp. 7-13. Date of Electronic Publication: 2012 Apr 25.