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Autor
Burlina, Alberto 1 Cortès-Saladelafont, Elisenda 1 Friedman, Jennifer 1 Garbade, Sven F 1 García-Cazorla, Angeles 1 Goez, Helly 1 Hoffmann, Georg F 1 Honzík, Tomáš 1 Horvath, Gabriella 1 Hübschmann, Daniel 1 Jeltsch, Kathrin 1 Kulhánek, Jan 1 Kurian, Manju A 1 Kuseyri Hübschmann, Oya 1 Kılavuz, Sebile 1 Leuzzi, Vincenzo 1 López-Laso, Eduardo 1 Mastrangelo, Mario 1 Mercimek-Andrews, Saadet 1 Opladen, Thomas 1
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1st Department of Pediatrics Aristotl... 1 1st Department of Pediatrics of the U... 1 Children's Hospital University Medica... 1 Childrenś Department Division of Chil... 1 Clinic for Pediatrics 1 Medical Unive... 1 Computational Oncology Molecular Diag... 1 Department of Human Neuroscience Unit... 1 Department of Neurology Donders Insti... 1 Department of Neurology Washington Un... 1 Department of Pediatric Immunology He... 1 Department of Pediatrics AOU Città de... 1 Department of Pediatrics Pediatric Ne... 1 Department of Pediatrics University o... 1 Department of Pediatrics and Adolesce... 1 Department of Pediatrics and Inherite... 1 Developmental Neurosciences UCL Great... 1 Division of Clinical and Metabolic Ge... 1 German Cancer Consortium Heidelberg G... 1 Hacettepe University Faculty of Medic... 1 Heidelberg Institute for Stem cell Te... 1
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Autor
Burlina, Alberto 1 Cortès-Saladelafont, Elisenda 1 Friedman, Jennifer 1 Garbade, Sven F 1 García-Cazorla, Angeles 1 Goez, Helly 1 Hoffmann, Georg F 1 Honzík, Tomáš 1 Horvath, Gabriella 1 Hübschmann, Daniel 1 Jeltsch, Kathrin 1 Kulhánek, Jan 1 Kurian, Manju A 1 Kuseyri Hübschmann, Oya 1 Kılavuz, Sebile 1 Leuzzi, Vincenzo 1 López-Laso, Eduardo 1 Mastrangelo, Mario 1 Mercimek-Andrews, Saadet 1 Opladen, Thomas 1
- Organizace
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Pracoviště
1st Department of Pediatrics Aristotl... 1 1st Department of Pediatrics of the U... 1 Children's Hospital University Medica... 1 Childrenś Department Division of Chil... 1 Clinic for Pediatrics 1 Medical Unive... 1 Computational Oncology Molecular Diag... 1 Department of Human Neuroscience Unit... 1 Department of Neurology Donders Insti... 1 Department of Neurology Washington Un... 1 Department of Pediatric Immunology He... 1 Department of Pediatrics AOU Città de... 1 Department of Pediatrics Pediatric Ne... 1 Department of Pediatrics University o... 1 Department of Pediatrics and Adolesce... 1 Department of Pediatrics and Inherite... 1 Developmental Neurosciences UCL Great... 1 Division of Clinical and Metabolic Ge... 1 German Cancer Consortium Heidelberg G... 1 Hacettepe University Faculty of Medic... 1 Heidelberg Institute for Stem cell Te... 1
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- Kuseyri Hübschmann, Oya
- Horvath, Gabriella
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Cortès-Saladelafont, Elisenda
Autor Cortès-Saladelafont, Elisenda 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, Yılmaz
- Mastrangelo, Mario
- Pons, Roser
- Friedman, Jennifer
- Mercimek-Andrews, Saadet
- Wong, Suet-Na
- Pearson, Toni S
Free Medical Journals od 2010
Nature Open Access od 2010-12-01
PubMed Central od 2012
Europe PubMed Central od 2012
ProQuest Central od 2010-01-01
Open Access Digital Library od 2015-01-01
Open Access Digital Library od 2015-01-01
Medline Complete (EBSCOhost) od 2012-11-01
Health & Medicine (ProQuest) od 2010-01-01
ROAD: Directory of Open Access Scholarly Resources od 2010
PubMed
34545092
DOI
10.1038/s41467-021-25515-5
Knihovny.cz E-zdroje
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.
- MeSH
- biogenní aminy metabolismus MeSH
- fenotyp MeSH
- genetické nemoci vrozené diagnóza patologie MeSH
- kojenec MeSH
- lidé MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- těhotenství MeSH
- vedení porodu MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
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