Lipid Dysregulation in Tangier Disease: A Case Series and Metabolic Characterization
Clinical phenotypes of TD can be heterogeneous including gastrointestinal and neurological manifestations. Impaired triglyceride-rich lipoprotein clearance and hepatic lipase activity could be a pathophysiological hallmark of TD.
Authors
- Winfried März (ORCID: https://orcid.org/0000-0001-6083-8946)
- Elmar Aigner (ORCID: https://orcid.org/0000-0003-0310-0536)
- Hansjörg Habisch (ORCID: https://orcid.org/0000-0001-5537-506X)
- Harald Esterbauer (ORCID: https://orcid.org/0000-0001-7343-7455)
- Bernhard Wernly (ORCID: https://orcid.org/0000-0003-4024-0220)
- Thomas Scherer (ORCID: https://orcid.org/0000-0003-4980-706X)
- Susanne Greber‐Platzer (ORCID: https://orcid.org/0000-0002-3706-8370)
- Sophie Gensluckner (ORCID: https://orcid.org/0009-0006-5008-7134)
- Matthäus Metz (ORCID: https://orcid.org/0000-0002-8344-9799)
- Christian Datz (ORCID: https://orcid.org/0000-0001-7838-4532)
- Tobias Madl (ORCID: https://orcid.org/0000-0002-9725-5231)
- Andreas Völkerer
- Georg Semmler (ORCID: https://orcid.org/0000-0002-0411-166X)
- Oleksandr Petrenko (ORCID: https://orcid.org/0000-0002-8586-4910)
- Hannah Hofer
- Clemens Baumgartner (ORCID: https://orcid.org/0000-0002-5277-4011)
- Felix Offner
- Manuela Neyer
- Sophie Draxler-Dworzak
- Charlotte Nigmann (ORCID: https://orcid.org/0000-0002-3692-8754)
Institutions
- University of Southern Denmark (DK)
- Medical University of Graz (AT)
- Heidelberg University (DE)
- Paracelsus Medical University (AT)
- Odense University Hospital (DK)
- University Hospital Heidelberg (DE)
- Landeskrankenhaus Feldkirch (AT)
- Max Planck Institute for Metabolism Research (DE)
- BioTechMed-Graz (AT)
- Krankenhaus Oberndorf (AT)
- Synlab (Germany) (DE)
- Vorarlberg Institute for Vascular Investigation and Treatment (AT)
- University Medical Centre Mannheim (DE)
- Research Institute of Ukrainian Studies (UA)
- Medical University of Vienna (AT)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-02-27
- DOI
- https://doi.org/10.1210/clinem/dgaf131
- Citations
- 3
- Primary Topic
- Peroxisome Proliferator-Activated Receptors
- Type
- article
- Field-Weighted Citation Impact
- 2.42