부산대학교 도서관

Neugebauer J; Department of Paediatric Gastroenterology, Nephrology and Metabolic Medicine, Charité - Universitaetsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children, Charité - Universitaetsmedizin Berlin, Berlin, Germany.; Reinson K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Bellusci M; Reference Center for Inherited Metabolic Disorders MetabERN, Mitochondrial Disorders Research Group (imas12) '12 de Octubre' University Hospital, Madrid, Spain.; Park JH; Department of General Paediatrics, University Hospital Muenster, Muenster, Germany.; Hikmat O; Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Norway.; Department of Clinical Medicine (K1), University of Bergen, Norway.; Bertini E; Research Unit of Neuromuscular and Neurodegenerative Disease, Translational Pediatrics and Clinical Genetics, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy.; Schiff M; Université Paris Cité, Institut Imagine, Genetics of Mitochondrial Disorders, INSERM UMR, Paris, France.; Reference Centre for Mitochondrial Disorders and Reference Centre for Metabolic Disease, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; Rahman S; Mitochondrial Research Group, Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London, UK.; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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

Budinger D; Department of Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, London, UK.; Alhaque S; Department of Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, London, UK.; González-Méndez R; School of Life Sciences, University of Sussex, Brighton, UK.; Dadswell C; School of Life Sciences, University of Sussex, Brighton, UK.; Barwick K; Department of Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, London, UK.; Ferrini A; Department of Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, London, UK.; Roth C; Department of Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, London, UK.; McCann CJ; Department of Cell and Developmental Biology, University College London, London, UK.; Tuschl K; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Al Jasmi F; Department of Genetics & Genomics, College of Medicine and Health Science, United Arab Emirates University, Al Ain, UAE.; Division of Metabolic Genetics, Department of Pediatrics, Tawam Hospital, Al Ain, UAE.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Park JH; University Hospital Münster, Department of General Paediatrics, Münster, Germany.; Dale RC; Children's Hospital at Westmead University of Sydney, Sydney, NSW, Australia.; Mohammad S; Children's Hospital at Westmead University of Sydney, Sydney, NSW, Australia.; Christodoulou J; Murdoch Childrens Research Institute, The Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Moulding D; Department of Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, London, UK.; Duchen MR; Department of Cell and Developmental Biology, University College London, London, UK.; Barral S; Department of Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, London, UK.; Kurian MA; Department of Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.

Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: In Process

Ezer, Shlomit; Daana, Muhannad; Park, Julien H; Yanovsky-Dagan, Shira; Nordström, Ulrika; Basal, Adily; Edvardson, Simon; Saada, Ann; Otto, Markus; Meiner, Vardiella; Marklund, Stefan L; Andersen, Peter Munch; Harel, Tamar

Brain: A Journal of Neurology. Mar2022, Vol. 145 Issue 3, p872-878. 7p.

Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; van de Locht M; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.; Reunert J; Department of General Pediatrics, University of Münster, Münster, 48149, Germany.; McLean CA; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, 3004, Australia.; Faculty of Medicine, Nursing, and Health Sciences, Monash University, Melbourne, Victoria, 3168, Australia.; Zaki M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; de Winter JM; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Conijn S; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Hoomoedt D; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Neto OLA; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, 20122, Italy.; Viaene AN; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, 19104 PA, USA.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Gorokhova S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, 13005, France.; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, 13009, France.; Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Napoli L; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.; Park JH; Department of General Pediatrics, University Hospital Münster, Münster, 48149 Germany.; Immadisetty K; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA.; Miles LB; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia.; Essawi M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; McModie S; Department of Neurology, Alfred Health, Melbourne, Victoria, 3004, Australia.; Ferreira LF; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Department of Orthopaedic Surgery, Duke University School of Medicine, Durham, NC 27710, USA.; Zanotti S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.; Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; ElBagoury N; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Johnson KR; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Zhang Y; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Laing NG; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Davis MR; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia.; Hwee DT; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.; Hartman JJ; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.; Malik FI; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.; Kekenes-Huskey PM; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA.; Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.; Sharaf-Eldin W; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Marquardt T; Department of General Pediatrics, University of Münster, Münster, 48149, Germany.; Ravenscroft G; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

Park, Julien H; Elpers, Christiane; Reunert, Janine; McCormick, Michael L; Mohr, Julia; Biskup, Saskia; Schwartz, Oliver; Rust, Stephan; Grüneberg, Marianne; Seelhöfer, Anja; Schara, Ulrike; Boltshauser, Eugen; Spitz, Douglas R; Marquardt, Thorsten

Brain: A Journal of Neurology. Aug2019, Vol. 142 Issue 8, p2230-2237. 8p.

Park JH; Department of Clinical Sciences, Neurosciences, Umeå University, 901 87 Umeå, Sweden.; Department of General Paediatrics, University of Münster, 48149 Münster, Germany.; Nordström U; Department of Clinical Sciences, Neurosciences, Umeå University, 901 87 Umeå, Sweden.; Tsiakas K; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany.; Keskin I; Department of Medical Biosciences, Pathology, Umeå University, 901 85 Umeå, Sweden.; Elpers C; Department of General Paediatrics, University of Münster, 48149 Münster, Germany.; Mannil M; Clinic for Radiology, University Hospital Münster, WWU University of Münster, 48149 Münster, Germany.; Heller R; Starship Children's Health, Auckland City Hospital, Auckland 1142, New Zealand.; Nolan M; Starship Children's Health, Auckland City Hospital, Auckland 1142, New Zealand.; Alburaiky S; Starship Children's Health, Auckland City Hospital, Auckland 1142, New Zealand.; Zetterström P; Department of Medical Biosciences, Clinical Chemistry, Umeå University, 901 87 Umeå, Sweden.; Hempel M; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany.; Current address: Institute of Human Genetics, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Schara-Schmidt U; Department of Paediatric Neurology, University Hospital Essen, 39081 Essen, Germany.; Biskup S; CeGAT GmbH and Praxis für Humangenetik Tübingen, 72076 Tübingen, Germany.; Steinacker P; Department of Neurology, Martin-Luther-University Halle-Wittenberg, 06120 Halle (Saale), Germany.; Otto M; Department of Neurology, Martin-Luther-University Halle-Wittenberg, 06120 Halle (Saale), Germany.; Weishaupt J; Division for Neurodegenerative Diseases, Department of Neurology, Medical Faculty Mannheim, University of Heidelberg, 68167 Mannheim, Germany.; Hahn A; Department of Child Neurology, Justus Liebig University, 35392 Giessen, Germany.; Santer R; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany.; Marquardt T; Department of General Paediatrics, University of Münster, 48149 Münster, Germany.; Marklund SL; Department of Medical Biosciences, Clinical Chemistry, Umeå University, 901 87 Umeå, Sweden.; Andersen PM; Department of Clinical Sciences, Neurosciences, Umeå University, 901 87 Umeå, Sweden.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Wolking, Anna B; Park, Julien H; Grüneberg, Marianne; Reunert, Janine; Fingerhut, Ralph; Fobker, Manfred; Marquardt, Thorsten

Journal of Chromatography B. :64-70

Park JH; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Münster, Münster, Germany.; Marquardt T; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Münster, Münster, Germany.

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

Taday R; Department of General Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.; Park JH; Department of General Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.; Grüneberg M; Department of General Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.; DuChesne I; Department of General Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.; Reunert J; Department of General Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.; Marquardt T; Department of General Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany. marquat@uni-muenster.de.

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

Park JH; Department of General Pediatrics, University of Münster, Münster, Germany.; Och U; Department of General Pediatrics, University of Münster, Münster, Germany.; Braun T; Zentrum für Stoffwechseldiagnostik GmbH, Reutlingen, Germany.; Kriegel MF; Department of Ophthalmology, University of Münster Medical Centre, Münster, Germany.; Biskup S; Center for Genomics and Transcriptomics CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.; Korall H; Zentrum für Stoffwechseldiagnostik GmbH, Reutlingen, Germany.; Uhlig CE; Department of Ophthalmology, University of Münster Medical Centre, Münster, Germany.; Marquardt T; Department of General Pediatrics, University of Münster, Münster, Germany. Electronic address: marquat@uni-muenster.de.

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

Bremova-Ertl T; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Ramaswami U; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Brands M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Foltan T; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Gautschi M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Gissen P; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Gowing F; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Hahn A; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Jones S; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Kay R; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Kolnikova M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Arash-Kaps L; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Marquardt T; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Mengel E; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Park JH; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Reichmannová S; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Schneider SA; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Sivananthan S; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Walterfang M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Wibawa P; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Strupp M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).; Martakis K; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Berendes LS; University of Münster, Department of General Pediatrics, Münster, Germany.; Westhoff PS; University of Münster, Department of General Pediatrics, Münster, Germany.; Wittkowski H; University of Münster, Department of Pediatric Rheumatology and Immunology, Münster, Germany.; Seelhöfer A; University of Münster, Department of General Pediatrics, Münster, Germany.; Varga G; University of Münster, Department of Pediatric Rheumatology and Immunology, Münster, Germany.; Marquardt T; University of Münster, Department of General Pediatrics, Münster, Germany.; Park JH; University of Münster, Department of General Pediatrics, Münster, Germany.

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

Park JH; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.; Department of General Pediatrics, University of Münster, Münster, Germany.; Mealer RG; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, Massachusetts, USA.; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.; Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.; Hoffmann S; Zentrum für Sozial- und Neuropädiatrie, Vivantes Klinikum Neukölln, Berlin, Germany.; Grüneberg M; Department of General Pediatrics, University of Münster, Münster, Germany.; Biskup S; CeGAT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.; Fobker M; Center for Laboratory Medicine, University Hospital Münster, Münster, Germany.; Haven J; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.; Mangels U; Department of General Pediatrics, University of Münster, Münster, Germany.; Reunert J; Department of General Pediatrics, University of Münster, Münster, Germany.; Rust S; Department of General Pediatrics, University of Münster, Münster, Germany.; Schoof J; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.; Schwanke C; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.; Smoller JW; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, Massachusetts, USA.; Cummings RD; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.; Marquardt T; Department of General Pediatrics, University of Münster, Münster, 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

Kunzelmann K; Physiological Institute, University of Regensburg, University Street 31, 93053 Regensburg, Germany.; Ousingsawat J; Physiological Institute, University of Regensburg, University Street 31, 93053 Regensburg, Germany.; Kraus A; Department of Nephrology and Hypertension, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany.; Park JH; Department of Pediatrics, University Hospital Münster, 48149 Münster, Germany.; Marquardt T; Department of Pediatrics, University Hospital Münster, 48149 Münster, Germany.; Schreiber R; Physiological Institute, University of Regensburg, University Street 31, 93053 Regensburg, Germany.; Buchholz B; Department of Nephrology and Hypertension, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Park JH; Department of General Paediatrics, University of Münster, Münster, Germany.; Elpers C; Department of General Paediatrics, University of Münster, Münster, Germany.; Marquardt T; Department of General Paediatrics, University of Münster, Münster, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Park JH; Department of Paediatrics, University Hospital Münster, Münster, Nordrhein-Westfalen, Germany.; Ousingsawat J; Department of Physiology, University of Regensburg, Regensburg, Bayern, Germany.; Cabrita I; Department of Physiology, University of Regensburg, Regensburg, Bayern, Germany.; Bettels RE; Department of Paediatrics, University Hospital Münster, Münster, Nordrhein-Westfalen, Germany.; Große-Onnebrink J; Department of Paediatrics, University Hospital Münster, Münster, Nordrhein-Westfalen, Germany.; Schmalstieg C; Department of Paediatrics, University Hospital Münster, Münster, Nordrhein-Westfalen, Germany.; Biskup S; CeGaT GmbH, Tübingen, Baden-Württemberg, Germany.; Reunert J; Department of Paediatrics, University Hospital Münster, Münster, Nordrhein-Westfalen, Germany.; Rust S; Department of Paediatrics, University Hospital Münster, Münster, Nordrhein-Westfalen, Germany.; Schreiber R; Department of Physiology, University of Regensburg, Regensburg, Bayern, Germany.; Kunzelmann K; Department of Physiology, University of Regensburg, Regensburg, Bayern, Germany.; Marquardt T; Department of Paediatrics, University Hospital Münster, Münster, Nordrhein-Westfalen, Germany marquat@uni-muenster.de.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Zühlsdorf A; Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany.; Said M; Department of Medicine, Military Hospital Innsbruck, A-6020 Innsbruck, Austria.; Seger C; Institute of Medical and Chemical Laboratory Diagnostics (ZIMCL), University Hospital Innsbruck, Anichstraße 35, A-6020 Innsbruck, Austria.; Park JH; Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany.; Reunert J; Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany.; Rust S; Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany.; Wada Y; Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka University, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan.; Grüneberg M; Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany.; DuChesne I; Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany.; Marquardt T; Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany marquat@uni-muenster.de.

Publisher: Oxford University Press Country of Publication: England NLM ID: 8310684 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1464-3502 (Electronic) Linking ISSN: 07350414 NLM ISO Abbreviation: Alcohol Alcohol Subsets: MEDLINE

Park JH; Department of General Pediatrics, University of Münster, Münster, Germany.; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.; Reunert J; Department of General Pediatrics, University of Münster, Münster, Germany.; He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Mealer RG; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, MA, USA.; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.; Noel M; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.; Wada Y; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.; Grüneberg M; Department of General Pediatrics, University of Münster, Münster, Germany.; Horváth J; Institute of Human Genetics, University of Münster, Münster, Germany.; Cummings RD; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.; Schwartz O; Department of General Pediatrics, University of Münster, Münster, Germany.; Marquardt T; Department of General Pediatrics, University of Münster, Münster, Germany.

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

Mealer RG; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. rmealer@partners.org.; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, MA, USA. rmealer@partners.org.; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA. rmealer@partners.org.; Jenkins BG; Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA.; Chen CY; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Daly MJ; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Ge T; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, MA, USA.; Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA.; Lehoux S; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.; Marquardt T; Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Universitätsklinikum Münster, Münster, Germany.; Palmer CD; Laboratory of Inorganic and Nuclear Chemistry, Wadsworth Center, New York State Department of Health, Albany, NY, USA.; Department of Environmental Health Sciences, School of Public Health, University at Albany, Albany, NY, USA.; Park JH; Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Universitätsklinikum Münster, Münster, Germany.; Parsons PJ; Laboratory of Inorganic and Nuclear Chemistry, Wadsworth Center, New York State Department of Health, Albany, NY, USA.; Department of Environmental Health Sciences, School of Public Health, University at Albany, Albany, NY, USA.; Sackstein R; Department of Translational Medicine, Herbert Wertheim College of Medicine, Florida International University, Miami, FL, USA.; Williams SE; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.; Cummings RD; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.; Scolnick EM; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, MA, USA.; Smoller JW; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, MA, USA.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Linden S; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, Germany.; Klank S; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, Germany.; Harms E; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, Germany.; Grüneberg M; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, Germany.; Park JH; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, Germany.; Marquardt T; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, Germany.

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