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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
O. Kuseyri Hübschmann, G. Horvath, E. Cortès-Saladelafont, Y. Yıldız, M. Mastrangelo, R. Pons, J. Friedman, S. Mercimek-Andrews, SN. Wong, TS. Pearson, DI. Zafeiriou, J. Kulhánek, MA. Kurian, E. López-Laso, M. Oppebøen, S. Kılavuz, T. Wassenberg,...
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
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
Odkazy
PubMed
34545092
DOI
10.1038/s41467-021-25515-5
Knihovny.cz E-zdroje
- 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
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.
1st Department of Pediatrics Aristotle University of Thessaloniki Egnatia St 106 Thessaloniki Greece
1st Department of Pediatrics of the University of Athens Aghia Sofia Hospital Athens Greece
Children's Hospital University Medical Center Hamburg Eppendorf Hamburg Germany
Clinic for Pediatrics 1 Medical University of Innsbruck Innsbruck Austria
Department of Neurology Washington University School of Medicine St Louis MO USA
Department of Pediatrics AOU Città della Salute e della Scienza Torino Italy
Department of Pediatrics Pediatric Neurology Unit UZ Brussel VUB Brussels Belgium
Department of Pediatrics University of Alberta Glenrose Rehabilitation Hospital Edmonton AB Canada
German Cancer Consortium Heidelberg Germany
Heidelberg Institute for Stem cell Technology and Experimental Medicine Heidelberg Germany
UCSD Departments of Neuroscience and Pediatrics
University Children's Hospital Heidelberg Dietmar Hopp Metabolic Center Heidelberg Germany
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