부산대학교 도서관

Curie A; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Lion-François L; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Valayannopoulos V; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Perreton N; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Gavanon M; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Touil N; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Brun-Laurisse A; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Gheurbi F; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Buchy M; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Halep H; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Cheillan D; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Mercier C; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Brassier A; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Desnous B; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Kassai B; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; De Lonlay P; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.; Des Portes V; From the Child Neurology Department and Reference Centre of Rare Disease with Intellectual Disability (A.C., L.L.-F., M.G., A.B.-L., F.G., M.B., V.D.P.), Hospices Civils de Lyon, Lyon University Hospital; Lyon Neuroscience Research Centre (A.C., M.G., A.B.-L., F.G., M.B., V.D.P.), CNRS UMR5292, INSERM U1028; Lyon University (A.C., V.D.P.); Reference Centre for Inherited Metabolic Diseases (V.V., A.B., P.D.L.), Imagine Institute, Necker Enfants-Malades Hospital, Paris University Hospital, University of Paris Descartes; Clinical Investigation Center 1407/INSERM-Hospices Civils de Lyon (N.P., N.T., H.H., B.K.), Bron; Inborn Errors of Metabolism Unit (D.C.), Biochemistry and Molecular Biology Department; Department of Biostatistics (C.M.), Lyon University Hospital; and Reference Centre for Inherited Metabolic Diseases (B.D.), Department of Child Neurology, Marseille University Hospital, France.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Ford CL; Decibel Therapeutics, Inc, Boston, MA, USA.; Riggs WJ; Decibel Therapeutics, Inc, Boston, MA, USA.; Quigley T; Decibel Therapeutics, Inc, Boston, MA, USA.; Keifer OP Jr; Decibel Therapeutics, Inc, Boston, MA, USA.; Whitton JP; Decibel Therapeutics, Inc, Boston, MA, USA.; Valayannopoulos V; Decibel Therapeutics, Inc, Boston, MA, USA. vvalayannopoulos@decibeltx.com.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Sumathipala D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.; Strømme P; Division of Pediatric and Adolescent Medicine, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.; Faculty of Medicine, University of Oslo, Oslo, Norway.; Fattahi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Lüders T; Department of Clinical Molecular Biology, Section of Clinical Molecular Biology (EpiGen), University of Oslo and Akershus University Hospital, Lørenskog, Norway.; Sheng Y; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Einarsen IH; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.; Sloan JL; Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.; Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; van den Heuvel L; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Wevers RA; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; United for Metabolic Disease-UMD, The Netherlands.; Guerrero-Castillo S; University Children's Research@Kinder-UKE, University Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany.; Mørkrid L; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Valayannopoulos V; Necker-Enfants Malades University Hospital and IMAGINE Institute, Paris, France.; Backe PH; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Department of Microbiology, Oslo University Hospital, Oslo, Norway.; Venditti CP; Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.; van Karnebeek CD; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; United for Metabolic Disease-UMD, The Netherlands.; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada.; Nilsen H; Department of Clinical Molecular Biology, Section of Clinical Molecular Biology (EpiGen), University of Oslo and Akershus University Hospital, Lørenskog, Norway.; Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.; Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.

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

Romano S; Valayannopoulos V; Touati G; Jais JP; Rabier D; de Keyzer Y; Bonnet D; de Lonlay P; Romano, Stéphane; Valayannopoulos, Vassili; Touati, Guy; Jais, Jean-Pierre; Rabier, Daniel; de Keyzer, Yves; Bonnet, Damien; de Lonlay, Pascale

Journal of Pediatrics; Jan2010, Vol. 156 Issue 1, p128-134, 7p

Bahi-Buisson N; Roze E; Dionisi C; Escande F; Valayannopoulos V; Feillet F; Heinrichs C

Developmental Medicine & Child Neurology. Dec2008, Vol. 50 Issue 12, p945-949. 5p.

Neven B; Valayannopoulos V; Quartier P; Blanche S; Prieur A; Debré M; Rolland M; Rabier D; Cuisset L; Cavazzana-Calvo M; de Lonlay P; Fischer A

New England Journal of Medicine. 6/28/2007, Vol. 356 Issue 26, p2700-2703. 4p.

Derks TGJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.; Rodriguez-Buritica DF; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.; Ahmad A; Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI 48109, USA.; de Boer F; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.; Couce ML; IDIS, CIBERER, MetabERN, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center-University of Freiburg, 79106 Freiburg, Germany.; Labrune P; APHP, Université Paris-Saclay, Hôpital Antoine-Béclère, 92140 Clamart, France.; Inserm U 1195, Paris-Saclay University, 94276 Le Kremlin Bicêtre, France.; López Maldonado N; Piera Health Center, Catalan Institute of Health, 08007 Barcelona, Spain.; Autonomous University of Barcelona, 08193 Barcelona, Spain.; Fischinger Moura de Souza C; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.; Riba-Wolman R; Connecticut Children's Medical Center, Department of Pediatrics, Division of Endocrinology, University of Connecticut, Farmington, CT 06032, USA.; Rossi A; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.; Department of Translational Medicine, Section of Paediatrics, University of Naples 'Federico II', 80131 Naples, Italy.; Saavedra H; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.; Gupta RN; Ultragenyx Pharmaceutical Inc., Novato, CA 94949, USA.; Valayannopoulos V; Ultragenyx Pharmaceutical Inc., Novato, CA 94949, USA.; Mitchell J; Department of Pediatrics, Division of Pediatric Endocrinology, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada.

Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN: 2072-6643 (Electronic) Linking ISSN: 20726643 NLM ISO Abbreviation: Nutrients Subsets: MEDLINE

Pontoizeau C; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France; Metabolomics Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France. Electronic address: clement.pontoizeau@aphp.fr.; Roda C; Université de Paris, CRESS, INSERM, INRA, HERA team (Health Environmental Risk Assessment), F-75004 Paris, France.; Arnoux JB; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.; Vignolo-Diard P; Neurophysiology Unit, AP-HP, Necker Enfants Malades Hospital, Paris, France.; Brassier A; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.; Habarou F; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France; Metabolomics Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.; Barbier V; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.; Grisel C; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.; Abi-Warde MT; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.; Boddaert N; Department of Pediatric Radiology, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, PRES Sorbonne Paris Cité, INSERM U1000, Institut Imagine, Paris, France.; Kuster A; Pediatric Critical Care Unit, Femme-Enfants-Adolescents Hospital, Nantes University, Nantes, France.; Servais A; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France; Department of Nephrology, Transplantation, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.; Kaminska A; Neurophysiology Unit, AP-HP, Necker Enfants Malades Hospital, Paris, France.; Hennequin C; Biochemistry, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.; Dupic L; Pediatric Critical Care Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.; Lesage F; Pediatric Critical Care Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.; Touati G; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.; Valayannopoulos V; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.; Chadefaux-Vekemans B; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France; Metabolomics Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.; Oualha M; Pediatric Critical Care Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.; Eisermann M; Neurophysiology Unit, AP-HP, Necker Enfants Malades Hospital, Paris, France.; Ottolenghi C; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France; Metabolomics Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.; de Lonlay P; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.

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

Dabaj I; CHU de Rouen, Service de néonatologie, réanimation pédiatrique, neuropédiatrie et éducation fonctionnelle de l'enfant, 76000 Rouen, France.; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, 92380 Garches, France.; Centre de Reference Nord-Est-Ile de France pour le Réseau national de maladies neuromusculaires (FILNEMUS), 75015 Paris, France.; Gitiaux C; Centre de Reference Nord-Est-Ile de France pour le Réseau national de maladies neuromusculaires (FILNEMUS), 75015 Paris, France.; Service de neurophysiologie clinique pédiatrique, Hôpital universitaire Necker Enfants Malades, APHP, Université de Paris, 75015 Paris, France.; Avila-Smirnow D; Sección de Neurología, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Santiago 8330077, Chile.; Ropers J; Unité de recherche clinique, Hôpital Pitié Salpetrière, AP-HP, 75013 Paris, France.; Desguerre I; Centre de Reference Nord-Est-Ile de France pour le Réseau national de maladies neuromusculaires (FILNEMUS), 75015 Paris, France.; Salon A; Université Paris Descartes, Sorbonne Paris Cité. Service d'orthopédie infantile, Hôpital Necker enfants malades, 75015 Paris, France.; Pannier S; Université Paris Descartes, Sorbonne Paris Cité. Service d'orthopédie infantile, Hôpital Necker enfants malades, 75015 Paris, France.; Tebani A; CHU de Rouen, laboratoire de biochimie métabolique, 76000 Rouen, France.; Valayannopoulos V; Sanofi Genzyme, 50 Binney Street, Cambridge, MA 02142, USA.; Quijano-Roy S; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, 92380 Garches, France.; Centre de Reference Nord-Est-Ile de France pour le Réseau national de maladies neuromusculaires (FILNEMUS), 75015 Paris, France.; INSERM U1179, Université Versailles Saint-Quentin (UVSQ), UFR des sciences de la santé Simone Veil, 78180 Montigny, France.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101658402 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4418 (Print) Linking ISSN: 20754418 NLM ISO Abbreviation: Diagnostics (Basel) Subsets: PubMed not MEDLINE

Bahi-Buisson N; El Sabbagh S; Soufflet C; Escande F; Boddaert N; Valayannopoulos V; Bellané-Chantelot C; Lascelles K; Dulac O; Plouin P; de Lonlay P

Seizure (SEIZURE), Oct2008; 17(7): 658-664. (7p)