TY  - JOUR
AU  - Kuseyri Hübschmann, Oya
AU  - Horvath, Gabriella
AU  - Cortès-Saladelafont, Elisenda
AU  - Yıldız, Yılmaz
AU  - Mastrangelo, Mario
AU  - Pons, Roser
AU  - Friedman, Jennifer
AU  - Mercimek-Andrews, Saadet
AU  - Wong, Suet-Na
AU  - Pearson, Toni S
AU  - Zafeiriou, Dimitrios I
AU  - Kulhánek, Jan
AU  - Kurian, Manju A
AU  - López-Laso, Eduardo
AU  - Oppebøen, Mari
AU  - Kılavuz, Sebile
AU  - Wassenberg, Tessa
AU  - Goez, Helly
AU  - Scholl-Bürgi, Sabine
AU  - Porta, Francesco
AU  - Honzík, Tomáš
AU  - Santer, René
AU  - Burlina, Alberto
AU  - Sivri, H Serap
AU  - Leuzzi, Vincenzo
AU  - Hoffmann, Georg F
AU  - Jeltsch, Kathrin
AU  - Hübschmann, Daniel
AU  - Garbade, Sven F
AU  - iNTD Registry Study Group
AU  - García-Cazorla, Angeles
AU  - Opladen, Thomas
PY  - 2021
DO  - 10.1038/s41467-021-25515-5
UR  - https://hdl.handle.net/10668/28273
T2  - Nature communications
AB  - 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...
LA  - en
KW  - Biogenic Amines
KW  - Child, Preschool
KW  - Delivery, Obstetric
KW  - Female
KW  - Genetic Diseases, Inborn
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Phenotype
KW  - Pregnancy
TI  - Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
TY  - research article
VL  - 12
ER  -