Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
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| Title: | Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. |
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| Authors: | 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., Yıldız 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.; Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany., Opladen T; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Goez H; Department of Pediatrics, University of Alberta, Glenrose Rehabilitation Hospital, Edmonton, Alberta, Canada., Burlina A; U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano, Padova, Italy., Cortès-Saladelafont E; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; 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., Fernández Ramos JA; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain., García-Cazorla A; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Hoffmann GF; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Kiat Hong ST; KTP-National University Children's Medical Institute, National University Health System, Singapore, Singapore., Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Kavecan I; Faculty of Medicine, University of Novi Sad, Institute for Children and Youth Health Care of Vojvodina, Novi Sad, Serbia., Kurian MA; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK., Leuzzi V; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy., Lücke T; University Children's Hospital, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany., Manzoni F; 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., Mastrangelo M; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Medical Genetics, University of Alberta, Women and Children's Health Research Institute, Stollery Children's Hospital, Edmonton, Alberta, Canada., Mir P; 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., Oppebøen M; Children's Department Division of Child Neurology Oslo University Hospital Rikshospitalet, Oslo, Norway., Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Sivri HS; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Pediatric Metabolism, Ankara, Turkey., Steel D; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK., Stevanović G; Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine, University of Belgrade, Belgrade, Serbia., Fung CW; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong. |
| Corporate Authors: | International Working Group on Neurotransmitter related Disorders (iNTD) |
| Source: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Nov; Vol. 44 (6), pp. 1489-1502. Date of Electronic Publication: 2021 Aug 02. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | 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 |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 34245036 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Keller+M%22">Keller M</searchLink>; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Brennenstuhl+H%22">Brennenstuhl H</searchLink>; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Kuseyri+Hübschmann+O%22">Kuseyri Hübschmann O</searchLink>; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Manti+F%22">Manti F</searchLink>; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Julia+Palacios+NA%22">Julia Palacios NA</searchLink>; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Friedman+J%22">Friedman J</searchLink>; UCSD Departments of Neuroscience and Pediatrics; Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Yıldız+Y%22">Yıldız Y</searchLink>; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Pediatric Metabolism, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Koht+JA%22">Koht JA</searchLink>; Department of Neurology, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Wong+SN%22">Wong SN</searchLink>; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Zafeiriou+DI%22">Zafeiriou DI</searchLink>; First Department of Pediatrics Aristotle University of Thessaloniki, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22López-Laso+E%22">López-Laso E</searchLink>; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain.<br /><searchLink fieldCode="AU" term="%22Pons+R%22">Pons R</searchLink>; First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kulhánek+J%22">Kulhánek J</searchLink>; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Jeltsch+K%22">Jeltsch K</searchLink>; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Serrano-Lomelin+J%22">Serrano-Lomelin J</searchLink>; Women and Children's Health Research Institute, University of Alberta, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Garbade+SF%22">Garbade SF</searchLink>; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.; Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Opladen+T%22">Opladen T</searchLink>; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Goez+H%22">Goez H</searchLink>; Department of Pediatrics, University of Alberta, Glenrose Rehabilitation Hospital, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Burlina+A%22">Burlina A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cortès-Saladelafont+E%22">Cortès-Saladelafont E</searchLink>; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; 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.<br /><searchLink fieldCode="AU" term="%22Fernández+Ramos+JA%22">Fernández Ramos JA</searchLink>; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain.<br /><searchLink fieldCode="AU" term="%22García-Cazorla+A%22">García-Cazorla A</searchLink>; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Hoffmann+GF%22">Hoffmann GF</searchLink>; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Kiat+Hong+ST%22">Kiat Hong ST</searchLink>; KTP-National University Children's Medical Institute, National University Health System, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Honzík+T%22">Honzík T</searchLink>; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Kavecan+I%22">Kavecan I</searchLink>; Faculty of Medicine, University of Novi Sad, Institute for Children and Youth Health Care of Vojvodina, Novi Sad, Serbia.<br /><searchLink fieldCode="AU" term="%22Kurian+MA%22">Kurian MA</searchLink>; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Leuzzi+V%22">Leuzzi V</searchLink>; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Lücke+T%22">Lücke T</searchLink>; University Children's Hospital, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Manzoni+F%22">Manzoni F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mastrangelo+M%22">Mastrangelo M</searchLink>; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Mercimek-Andrews+S%22">Mercimek-Andrews S</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Medical Genetics, University of Alberta, Women and Children's Health Research Institute, Stollery Children's Hospital, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Mir+P%22">Mir P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Oppebøen+M%22">Oppebøen M</searchLink>; Children's Department Division of Child Neurology Oslo University Hospital Rikshospitalet, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Pearson+TS%22">Pearson TS</searchLink>; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Sivri+HS%22">Sivri HS</searchLink>; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Pediatric Metabolism, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Steel+D%22">Steel D</searchLink>; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Stevanović+G%22">Stevanović G</searchLink>; Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine, University of Belgrade, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Fung+CW%22">Fung CW</searchLink>; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22International+Working+Group+on+Neurotransmitter+related+Disorders+%28iNTD%29%22">International Working Group on Neurotransmitter related Disorders (iNTD)</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2021 Nov; Vol. 44 (6), pp. 1489-1502. <i>Date of Electronic Publication: </i>2021 Aug 02. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7910918 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2665 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201418955%22">01418955 </searchLink><i>NLM ISO Abbreviation: </i>J Inherit Metab Dis <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jimd.12416 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1489 Titles: – TitleFull: Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Keller M – PersonEntity: Name: NameFull: Brennenstuhl H – PersonEntity: Name: NameFull: Kuseyri Hübschmann O – PersonEntity: Name: NameFull: Manti F – PersonEntity: Name: NameFull: Julia Palacios NA – PersonEntity: Name: NameFull: Friedman J – PersonEntity: Name: NameFull: Yıldız Y – PersonEntity: Name: NameFull: Koht JA – PersonEntity: Name: NameFull: Wong SN – PersonEntity: Name: NameFull: Zafeiriou DI – PersonEntity: Name: NameFull: López-Laso E – PersonEntity: Name: NameFull: Pons R – PersonEntity: Name: NameFull: Kulhánek J – PersonEntity: Name: NameFull: Jeltsch K – PersonEntity: Name: NameFull: Serrano-Lomelin J – PersonEntity: Name: NameFull: Garbade SF – PersonEntity: Name: NameFull: Opladen T – PersonEntity: Name: NameFull: Goez H – PersonEntity: Name: NameFull: Burlina A – PersonEntity: Name: NameFull: Cortès-Saladelafont E – PersonEntity: Name: NameFull: Fernández Ramos JA – PersonEntity: Name: NameFull: García-Cazorla A – PersonEntity: Name: NameFull: Hoffmann GF – PersonEntity: Name: NameFull: Kiat Hong ST – PersonEntity: Name: NameFull: Honzík T – PersonEntity: Name: NameFull: Kavecan I – PersonEntity: Name: NameFull: Kurian MA – PersonEntity: Name: NameFull: Leuzzi V – PersonEntity: Name: NameFull: Lücke T – PersonEntity: Name: NameFull: Manzoni F – PersonEntity: Name: NameFull: Mastrangelo M – PersonEntity: Name: NameFull: Mercimek-Andrews S – PersonEntity: Name: NameFull: Mir P – PersonEntity: Name: NameFull: Oppebøen M – PersonEntity: Name: NameFull: Pearson TS – PersonEntity: Name: NameFull: Sivri HS – PersonEntity: Name: NameFull: Steel D – PersonEntity: Name: NameFull: Stevanović G – PersonEntity: Name: NameFull: Fung CW IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 11 Text: 2021 Nov Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1573-2665 Numbering: – Type: volume Value: 44 – Type: issue Value: 6 Titles: – TitleFull: Journal of inherited metabolic disease Type: main |
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