Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel <i>SLCA6A19</i> Variant
Metabolic workup and whole-exome sequencing are recommended in rapidly progressive neuropsychiatric disease, especially with additional neurologic signs and when standard treatment fails.
Authors
- Christina Pott
- H. Faust (ORCID: https://orcid.org/0009-0005-2853-341X)
- Florian Then Bergh (ORCID: https://orcid.org/0000-0001-8604-8408)
- Rami Abou Jamra (ORCID: https://orcid.org/0000-0002-1542-1399)
- Skadi Beblo
- Tobias Bachmann (ORCID: https://orcid.org/0000-0003-1796-6015)
- Jost‐Julian Rumpf (ORCID: https://orcid.org/0000-0003-4062-0602)
- Michael Kluge (ORCID: https://orcid.org/0000-0002-5733-6133)
Institutions
- University Hospital Leipzig (DE)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-11-27
- DOI
- https://doi.org/10.1212/nxg.0000000000200195
- Citations
- 2
- Primary Topic
- Prion Diseases and Protein Misfolding
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Deutsche Forschungsgemeinschaft