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Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yildiz, Yilmaz; Koht, Jeanette Aimee; Wong, Suet-Na; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano-Lomelin, Jesus; Garbade, Sven F; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès-Saladelafont, Elisenda; Fernández Ramos, Joaquín Alejandro; García-Cazorla, Angeles; Hoffmann, Georg F; Kiat Hong, Stacey Tay; Honzík, Tomás; Kavecan, Ivana; Kurian, Manju A; Leuzzi, Vincenzo; Lücke, Thomas; Manzoni, Francesca; Mastrangelo, Mario; Mercimek-Andrews, Saadet; Mir, Pablo; Oppebøen, Mari; Pearson, Toni S; Sivri, H Serap; Steel, Dora; Stevanovic, Galina; Fung, Cheuk-Wing.
Afiliación
  • Keller M; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Brennenstuhl H; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Kuseyri Hübschmann O; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Manti F; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy.
  • Julia Palacios NA; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
  • Friedman J; UCSD Departments of Neuroscience and Pediatrics; Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
  • Yildiz Y; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Pediatric Metabolism, Ankara, Turkey.
  • Koht JA; Department of Neurology, Oslo University Hospital, Oslo, Norway.
  • Wong SN; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong.
  • Zafeiriou DI; First Department of Pediatrics Aristotle University of Thessaloniki, Thessaloniki, Greece.
  • López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain.
  • Pons R; First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece.
  • Kulhánek J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Jeltsch K; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Serrano-Lomelin J; Women and Children's Health Research Institute, University of Alberta, Edmonton, Alberta, Canada.
  • Garbade SF; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Opladen T; Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Goez H; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Cortès-Saladelafont E; U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano, Padova, Italy.
  • Fernández Ramos JA; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
  • García-Cazorla A; Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Hoffmann GF; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain.
  • Kiat Hong ST; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
  • Honzík T; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Kavecan I; KTP-National University Children's Medical Institute, National University Health System, Singapore, Singapore.
  • Kurian MA; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Leuzzi V; Faculty of Medicine, University of Novi Sad, Institute for Children and Youth Health Care of Vojvodina, Novi Sad, Serbia.
  • Lücke T; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Manzoni F; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy.
  • Mastrangelo M; University Children's Hospital, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
  • Mercimek-Andrews S; U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano, Padova, Italy.
  • Mir P; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy.
  • Oppebøen M; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Pearson TS; Department of Medical Genetics, University of Alberta, Women and Children's Health Research Institute, Stollery Children's Hospital, Edmonton, Alberta, Canada.
  • Sivri HS; Unidad de Trastornos del Movimiento Servicio de Neurología y Neurofisiología Clínica Unidad de Gestión Clínica de Neurociencias Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío, Sevilla, Spain.
  • Steel D; Children's Department Division of Child Neurology Oslo University Hospital Rikshospitalet, Oslo, Norway.
  • Stevanovic G; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Fung CW; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Pediatric Metabolism, Ankara, Turkey.
J Inherit Metab Dis ; 44(6): 1489-1502, 2021 11.
Article en En | MEDLINE | ID: mdl-34245036
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Calidad de Vida / Neurotransmisores Tipo de estudio: Etiology_studies Aspecto: Patient_preference Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Calidad de Vida / Neurotransmisores Tipo de estudio: Etiology_studies Aspecto: Patient_preference Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos