Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
About this item
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Author / Creator
Kuseyri Hübschmann, Oya , Horvath, Gabriella , Cortès-Saladelafont, Elisenda , Yıldız, Yılmaz , Mastrangelo, Mario , Pons, Roser , Friedman, Jennifer , Mercimek-Andrews, Saadet , Wong, Suet-Na , Pearson, Toni S. , Zafeiriou, Dimitrios I. , Kulhánek, Jan , Kurian, Manju A. , López-Laso, Eduardo , Oppebøen, Mari , Kılavuz, Sebile , Wassenberg, Tessa , Goez, Helly , Scholl-Bürgi, Sabine , Porta, Francesco , Honzík, Tomáš , Santer, René , Burlina, Alberto , Sivri, H. Serap , Leuzzi, Vincenzo , Hoffmann, Georg F. , Jeltsch, Kathrin , Hübschmann, Daniel , Garbade, Sven F. , García-Cazorla, Angeles , Opladen, Thomas and iNTD Registry Study Group
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 27...
Alternative Titles
Full title
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Authors, Artists and Contributors
Author / Creator
Horvath, Gabriella
Cortès-Saladelafont, Elisenda
Yıldız, Yılmaz
Mastrangelo, Mario
Pons, Roser
Friedman, Jennifer
Mercimek-Andrews, Saadet
Wong, Suet-Na
Pearson, Toni S.
Zafeiriou, Dimitrios I.
Kulhánek, Jan
Kurian, Manju A.
López-Laso, Eduardo
Oppebøen, Mari
Kılavuz, Sebile
Wassenberg, Tessa
Goez, Helly
Scholl-Bürgi, Sabine
Porta, Francesco
Honzík, Tomáš
Santer, René
Burlina, Alberto
Sivri, H. Serap
Leuzzi, Vincenzo
Hoffmann, Georg F.
Jeltsch, Kathrin
Hübschmann, Daniel
Garbade, Sven F.
García-Cazorla, Angeles
Opladen, Thomas
iNTD Registry Study Group
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_57ed0d119cac4d23beb8d71a0c1e8d75
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_57ed0d119cac4d23beb8d71a0c1e8d75
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-021-25515-5
