부산대학교 도서관

Harting I; Neumaier-Probst E; Seitz A; Maier EM; Assmann B; Baric I; Troncoso M; Mühlhausen C; Zschocke J; Boy NP; Hoffmann GF; Garbade SF; Kölker S

Brain: A Journal of Neurology (BRAIN), Jul2009; 132(7): 1764-1782. (19p)

Hartmann, S; Okun, JG; Schmidt, C; Langhans, CD; Garbade, SF; Burgard, P; Haas, D; Sass, JO; Nyhan, WL; Hoffmann, GF

CLINICAL CHEMISTRY; JUN 2006, 52 6, p1127-p1137, 11p.

Kolker, S; Garbade, SF; Greenberg, CR; Leonard, JV; Saudubray, JM; Ribes, A; Kalkanoglu, S; Lund, AM; Merinero, B; Wajner, M; Troncoso, M; Williams, M; Walter, JH; Campistol, J; Marti-Herrero, M; Caswill, M; Burlina, AB; Lagler, F; Maier, EM; Schwahn, B; Tokatli, A; Dursun, A; Coskun, T; Chalmers, RA; Koeller, DM; Zschocke, J; Christensen, E; Burgard, P; Hoffmann, GF

PEDIATRIC RESEARCH; JUN 2006, 59 6, p840-p847, 8p.

Himmelreich N; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany.; Ramón-Maiques S; Instituto de Biomedicina de Valencia (IBV), CSIC, Valencia, Spain; Group 739, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-Instituto de Salud Carlos III, Valencia, Spain.; Navarrete R; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, CIBERER, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.; Castejon-Fernandez N; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, CIBERER, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.; Garbade SF; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany.; Martinez A; Department of Biomedicine, University of Bergen, Bergen, Norway.; Desviat LR; Centro de Biología Molecular Severo Ochoa UAM-CSIC, CIBERER, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.; Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, CIBERER, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain. Electronic address: bperez@cbm.csic.es.; Blau N; Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.

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

Betzler IR; Institute of Human Genetics, Heidelberg University and University Hospital Heidelberg, Heidelberg, Germany.; Hempel M; Institute of Human Genetics, Heidelberg University and University Hospital Heidelberg, Heidelberg, Germany.; Mütze U; Centre for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University and University Hospital Heidelberg, Heidelberg, Germany.; Kölker S; Centre for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University and University Hospital Heidelberg, Heidelberg, Germany.; Winkler E; Section of Translational Medical Ethics, National Center for Tumour Diseases, Heidelberg University and University Hospital Heidelberg, Heidelberg, Germany.; Dikow N; Institute of Human Genetics, Heidelberg University and University Hospital Heidelberg, Heidelberg, Germany.; Garbade SF; Centre for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University and University Hospital Heidelberg, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University and University Hospital Heidelberg, Heidelberg, Germany.; Brennenstuhl H; Institute of Human Genetics, Heidelberg University and University Hospital Heidelberg, Heidelberg, Germany.

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

Julia-Palacios NA; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Kuseyri Hübschmann O; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Olivella M; Bioinfomatics and Medical Statistics Group, University of Vic-Central University of Catalonia, Vic, Spain.; Pons R; First Department of Pediatrics, Aghia Sofia Hospital, University of Athens, Athens, Greece.; Horvath G; Division of Biochemical Genetics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.; Lücke T; St. Josef-Hospital, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany.; Fung CW; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong.; Wong SN; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong.; Cortès-Saladelafont E; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Unit of Inherited Metabolic Diseases and Child Neurology, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Rovira-Remisa MM; Unit of Inherited Metabolic Diseases and Child Neurology, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Mercimek-Andrews S; The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Medical Genetics, Faculty of Medicine and Dentistry, Women and Children's Health Research Institute, Stollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada.; Assmann B; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Stevanović G; Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine, University of Belgrade, Belgrade, Serbia.; Manti F; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università degli Studi di Roma La Sapienza, Rome, Italy.; Brennenstuhl H; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Institute of Human Genetics, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Jung-Klawitter S; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Jeltsch K; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Sivri HS; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Garbade SF; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; García-Cazorla À; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Opladen T; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.

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

Lenz D; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Shimura M; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Department of Metabolism, Chiba Children's Hospital, Centre for Medical Genetics, Chiba, Japan.; Bianzano A; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Kopajtich R; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Berutti R; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Adam R; Department of Paediatric Gastroenterology, Hepatology and Nutrition, University Children's Hospital, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.; Aldrian D; Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Baric I; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia.; Baumann U; Department of Peadiatric Kidney, Liver, and Metabolic Diseases, Division for Paediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany.; Bozbulut NE; Department of Paediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey.; Brugger M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Brunet T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Bufler P; Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Burnytė B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Calvo PL; Regina Margherita Children's Hospital, Paediatic Gastroenterology Unit, Torino, Italy.; Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin, Ireland.; Dalgiç B; Department of Paediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey.; Das AM; Hannover Medical School, Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover, Germany.; Dezsőfi A; First Department of Paediatrics, Semmelweis University, Budapest, Hungary.; Distelmaier F; Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.; Fichtner A; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Freisinger P; Department of Paediatrics, Hospital Reutlingen, Reutlingen, Germany.; Garbade SF; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Goujon L; CLAD Ouest CHU Hôpital Sud, CRMR Déficiences intellectuelles, Service de Génétique Médicale, Rennes, France.; Hadzic N; King's College Hospital, Paediatric Liver, GI & Nutrition Centre, London, United Kingdom.; Hartleif S; Eberhard Karls University Tuebingen, Paediatric Gastroenterology and Hepatology, Tuebingen, Germany.; Hegen B; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.; University Medical Centre Hamburg-Eppendorf, Institute of Human Genetics, Hamburg.; Henning S; Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Hoerning A; Department of Paediatrics, University Hospital Erlangen, Erlangen, Germany.; Houwen R; Paediatric Gastroenterology, UMC Utrecht, Utrecht, The Netherlands.; Hughes J; Children's Health Ireland, Temple Street Hospital, Dublin, Ireland.; Iorio R; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Iwanicka-Pronicka K; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Jankofsky M; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.; Junge N; Department of Peadiatric Kidney, Liver, and Metabolic Diseases, Division for Paediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany.; Kanavaki I; Department of Paediatric Gastroenterology, Hepatology and Nutrition, Third Department of Paediatrics, Attikon University General Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kansu A; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey.; Kaspar S; Department of Paediatrics, University Hospital Erlangen, Erlangen, Germany.; Kathemann S; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany.; Kelly D; Birmingham Children's Hospital NHS Trust, Liver Unit, Birmingham, UK.; Kirsaçlioğlu CT; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey.; Knoppke B; University Hospital Regensburg, KUNO University Children's Hospital, Regensburg, Germany.; Kohl M; Department of General Paediatrics, University Medical Centre Schleswig-Holstein, Kiel, Germany.; Kölbel H; Department of Paediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Kölker S; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Konstantopoulou V; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Krylova T; Research Centre for Medical Genetics, Moscow, Russian Federation.; Kuloğlu Z; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey.; Kuster A; Department of Neurometabolism, University Hospital of Nantes, Nantes, France.; Laass MW; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Lainka E; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany.; Lurz E; Department of Paediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; Mandel H; Department of Paediatrics, Rambam Medical Centre, Meyer Children's Hospital, Metabolic Unit, Haifa, Israel.; Mayerhanser K; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Mayr JA; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria.; McKiernan P; University of Pittsburgh and Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, Pittsburgh, Pennsylvania, USA.; McClean P; Children's Liver Unit, Leeds Children's Hospital, Leeds, UK.; McLin V; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland.; Mention K; Jeanne de Flandres Hospital, Reference Centre for Inherited Metabolic Diseases, Lille, France.; Müller H; Department of Paediatrics, Division of Neonatology and Paediatric Intensive Care, University Hospital Marburg, Marburg, Germany.; Pasquier L; CLAD Ouest CHU Hôpital Sud, CRMR Déficiences intellectuelles, Service de Génétique Médicale, Rennes, France.; Pavlov M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Pechatnikova N; Healthcare Department Morozov Children's City Clinical Hospital, Moscow City, Moscow.; Peters B; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Petković Ramadža D; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia.; Piekutowska-Abramczuk D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Pilic D; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany.; Rajwal S; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland.; Rock N; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland.; Roetig A; Laboratory of Genetics of Mitochondrial Diseases, Imagine Institute, University Paris Cité, INSERM UMR, Paris, France.; Santer R; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.; Schenk W; Department of Paediatrics, University Hospital Augsburg, Augsburg, Germany.; Semenova N; Research Centre for Medical Genetics, Moscow, Russian Federation.; Sokollik C; Department of Paediatrics, Division of Paediatric Gastroenterology, Hepatology and Nutrition, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Sturm E; Eberhard Karls University Tuebingen, Paediatric Gastroenterology and Hepatology, Tuebingen, Germany.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Tschiedel E; Department of Paediatrics I, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Urbonas V; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Urreizti R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, IRSJD, Esplugues de Llobregat, Barcelona, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)- Instituto de Salud Carlos III, Spain.; Vermehren J; University Hospital Regensburg, KUNO University Children's Hospital, Regensburg, Germany.; Vockley J; University of Pittsburgh and Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, Pittsburgh, Pennsylvania, USA.; Vogel GF; Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria.; Wagner M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; van der Woerd W; Paediatric Gastroenterology, UMC Utrecht, Utrecht, The Netherlands.; Wortmann SB; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria.; Zakharova E; Research Centre for Medical Genetics, Moscow, Russian Federation.; Hoffmann GF; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Murayama K; Department of Metabolism, Chiba Children's Hospital, Centre for Medical Genetics, Chiba, Japan.; Staufner C; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.

Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 8302946 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-3350 (Electronic) Linking ISSN: 02709139 NLM ISO Abbreviation: Hepatology Subsets: MEDLINE

Reischl-Hajiabadi AT; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Schnabel E; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Gleich F; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Mengler K; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Lindner M; University Children's Hospital, Frankfurt, Germany.; Burgard P; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Posset R; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Lommer-Steinhoff S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Freisinger P; Children's Hospital Reutlingen, Klinikum am Steinenberg Reutlingen, Reutlingen, Germany.; Hennermann JB; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.; Krämer J; Department of Pediatric and Adolescent Medicine, Medical School, Ulm University, Ulm, Germany.; Gramer G; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lenz D; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Christ S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Hörster F; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Garbade SF; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Kölker S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Mütze U; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.

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

Mütze U; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.; Ottenberger A; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.; Gleich F; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.; Maier EM; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.; Lindner M; Division of Pediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany.; Husain RA; Center for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany.; Palm K; Division of Endocrinology, Diabetology and Metabolic Medicine, University Children's Hospital, Magdeburg, Germany.; Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany.; Freisinger P; Children's Hospital Reutlingen, Klinikum am Steinenberg, Reutlingen, Germany.; Santer R; University Medical Center Hamburg-Eppendorf, University Children's Hospital, Hamburg, Germany.; Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Vom Dahl S; Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Weinhold N; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Center of Chronically Sick Children, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Grohmann-Held K; Department of Pediatrics and Adolescent Medicine, University Medicine Greifswald, Greifswald, Germany.; Haase C; Department of Pediatrics and Adolescent Medicine, Helios Hospital Erfurt, Erfurt, Germany.; Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, Germany.; Hörbe-Blindt A; Prof.-Hess Children's Hospital, Clinic Bremen Mitte, Bremen, Germany.; Kamrath C; Department of General Pediatrics and Neonatology, University Hospital of Gießen and Marburg, Gießen, Germany.; Marquardt I; Department of Child Neurology, Children's Hospital Oldenburg, Oldenburg, Germany.; Marquardt T; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Muenster, Muenster, Germany.; Behne R; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.; Haas D; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.; Spiekerkoetter U; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Hoffmann GF; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.; Garbade SF; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.; Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Kölker S; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Posset R; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany. Electronic address: roland.posset@med.uni-heidelberg.de.; Garbade SF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Gleich F; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Scharre S; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Okun JG; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Gropman AL; Children's National Health System and The George Washington School of Medicine, Washington, DC.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.; Druck AC; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Epp F; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kölker S; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Zielonka M; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany. Electronic address: matthias.zielonka@med.uni-heidelberg.de.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE