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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

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Title: Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Authors: Kuseyri Hübschmann O; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany., Horvath G; University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, Vancouver, BC, Canada., 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., Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Metabolism, Ankara, Turkey., Mastrangelo M; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy., Pons R; First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece., Friedman J; UCSD Departments of Neuroscience and Pediatrics; Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children 555 University Avenue Toronto, Toronto, ON, Canada., Wong SN; Department of Pediatrics and Adolescent Medicine, The Hong Kong Childrenś Hospital, Hong Kong, Hong Kong., Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA., Zafeiriou DI; First Department of Pediatrics Aristotle University of Thessaloniki Egnatia St. 106, Thessaloniki, 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., Kurian MA; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK., López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain., Oppebøen M; Childrenś Department Division of Child Neurology Oslo University Hospital Rikshospitalet Pb 4956 Nydalen, Oslo, Norway., Kılavuz S; Çukurova University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Adana, Turkey., Wassenberg T; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatrics, Pediatric Neurology Unit, UZ Brussel VUB, Brussels, Belgium., Goez H; Department of Pediatrics, University of Alberta Glenrose Rehabilitation Hospital, Edmonton, AB, Canada., Scholl-Bürgi S; Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Porta F; Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy., Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Santer R; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., 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., Sivri HS; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Metabolism, Ankara, Turkey., Leuzzi V; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy., Hoffmann GF; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany., Jeltsch K; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany., Hübschmann D; German Cancer Consortium (DKTK), Heidelberg, Germany.; Computational Oncology, Molecular Diagnostics Program, National Center for Tumor Diseases, DKFZ, Heidelberg, Germany.; Heidelberg Institute for Stem cell Technology and Experimental Medicine (HI-STEM), Heidelberg, Germany.; Department of Pediatric Immunology, Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany., Garbade SF; University Children's Hospital Heidelberg, Dietmar-Hopp Metabolic Center, Heidelberg, Germany., García-Cazorla A; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Opladen T; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany. Thomas.Opladen@med.uni-heidelberg.de.
Corporate Authors: iNTD Registry Study Group
Source: Nature communications [Nat Commun] 2021 Sep 20; Vol. 12 (1), pp. 5529. Date of Electronic Publication: 2021 Sep 20.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Kuseyri+Hübschmann+O%22">Kuseyri Hübschmann O</searchLink>; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Horvath+G%22">Horvath G</searchLink>; University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, Vancouver, BC, Canada.<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="%22Yıldız+Y%22">Yıldız Y</searchLink>; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Metabolism, Ankara, Turkey.<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="%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="%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, CA, USA.<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 555 University Avenue Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Wong+SN%22">Wong SN</searchLink>; Department of Pediatrics and Adolescent Medicine, The Hong Kong Childrenś Hospital, Hong Kong, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Pearson+TS%22">Pearson TS</searchLink>; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Zafeiriou+DI%22">Zafeiriou DI</searchLink>; First Department of Pediatrics Aristotle University of Thessaloniki Egnatia St. 106, Thessaloniki, 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="%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="%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="%22Oppebøen+M%22">Oppebøen M</searchLink>; Childrenś Department Division of Child Neurology Oslo University Hospital Rikshospitalet Pb 4956 Nydalen, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Kılavuz+S%22">Kılavuz S</searchLink>; Çukurova University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Adana, Turkey.<br /><searchLink fieldCode="AU" term="%22Wassenberg+T%22">Wassenberg T</searchLink>; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatrics, Pediatric Neurology Unit, UZ Brussel VUB, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Goez+H%22">Goez H</searchLink>; Department of Pediatrics, University of Alberta Glenrose Rehabilitation Hospital, Edmonton, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Scholl-Bürgi+S%22">Scholl-Bürgi S</searchLink>; Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Porta+F%22">Porta F</searchLink>; Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy.<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="%22Santer+R%22">Santer R</searchLink>; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Burlina+A%22">Burlina A</searchLink>; U.O.C. 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