Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42 countries, and highlight an evolving phenotypic s...
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Nature Portfolio
2021
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oai:doaj.org-article:57ed0d119cac4d23beb8d71a0c1e8d752021-12-02T18:48:11ZInsights into the expanding phenotypic spectrum of inherited disorders of biogenic amines10.1038/s41467-021-25515-52041-1723https://doaj.org/article/57ed0d119cac4d23beb8d71a0c1e8d752021-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-25515-5https://doaj.org/toc/2041-1723Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42 countries, and highlight an evolving phenotypic spectrum of this disease group and factors influencing diagnostic processes.Oya Kuseyri HübschmannGabriella HorvathElisenda Cortès-SaladelafontYılmaz YıldızMario MastrangeloRoser PonsJennifer FriedmanSaadet Mercimek-AndrewsSuet-Na WongToni S. PearsonDimitrios I. ZafeiriouJan KulhánekManju A. KurianEduardo López-LasoMari OppebøenSebile KılavuzTessa WassenbergHelly GoezSabine Scholl-BürgiFrancesco PortaTomáš HonzíkRené SanterAlberto BurlinaH. Serap SivriVincenzo LeuzziGeorg F. HoffmannKathrin JeltschDaniel HübschmannSven F. GarbadeiNTD Registry Study GroupAngeles García-CazorlaThomas OpladenNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-15 (2021) |
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DOAJ |
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DOAJ |
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EN |
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Science Q |
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Science Q Oya Kuseyri Hübschmann Gabriella Horvath Elisenda Cortès-Saladelafont Yılmaz Yıldız Mario Mastrangelo Roser Pons Jennifer Friedman Saadet Mercimek-Andrews Suet-Na Wong Toni S. Pearson Dimitrios I. Zafeiriou Jan Kulhánek Manju A. Kurian Eduardo López-Laso Mari Oppebøen Sebile Kılavuz Tessa Wassenberg Helly Goez Sabine Scholl-Bürgi Francesco Porta Tomáš Honzík René Santer Alberto Burlina H. Serap Sivri Vincenzo Leuzzi Georg F. Hoffmann Kathrin Jeltsch Daniel Hübschmann Sven F. Garbade iNTD Registry Study Group Angeles García-Cazorla Thomas Opladen Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines |
| description |
Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42 countries, and highlight an evolving phenotypic spectrum of this disease group and factors influencing diagnostic processes. |
| format |
article |
| author |
Oya Kuseyri Hübschmann Gabriella Horvath Elisenda Cortès-Saladelafont Yılmaz Yıldız Mario Mastrangelo Roser Pons Jennifer Friedman Saadet Mercimek-Andrews Suet-Na Wong Toni S. Pearson Dimitrios I. Zafeiriou Jan Kulhánek Manju A. Kurian Eduardo López-Laso Mari Oppebøen Sebile Kılavuz Tessa Wassenberg Helly Goez Sabine Scholl-Bürgi Francesco Porta Tomáš Honzík René Santer Alberto Burlina H. Serap Sivri Vincenzo Leuzzi Georg F. Hoffmann Kathrin Jeltsch Daniel Hübschmann Sven F. Garbade iNTD Registry Study Group Angeles García-Cazorla Thomas Opladen |
| author_facet |
Oya Kuseyri Hübschmann Gabriella Horvath Elisenda Cortès-Saladelafont Yılmaz Yıldız Mario Mastrangelo Roser Pons Jennifer Friedman Saadet Mercimek-Andrews Suet-Na Wong Toni S. Pearson Dimitrios I. Zafeiriou Jan Kulhánek Manju A. Kurian Eduardo López-Laso Mari Oppebøen Sebile Kılavuz Tessa Wassenberg Helly Goez Sabine Scholl-Bürgi Francesco Porta Tomáš Honzík René Santer Alberto Burlina H. Serap Sivri Vincenzo Leuzzi Georg F. Hoffmann Kathrin Jeltsch Daniel Hübschmann Sven F. Garbade iNTD Registry Study Group Angeles García-Cazorla Thomas Opladen |
| author_sort |
Oya Kuseyri Hübschmann |
| title |
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines |
| title_short |
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines |
| title_full |
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines |
| title_fullStr |
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines |
| title_full_unstemmed |
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines |
| title_sort |
insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/57ed0d119cac4d23beb8d71a0c1e8d75 |
| work_keys_str_mv |
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1718377623631953920 |