Lipoprotein Lipase Deficiency: heterozygotes match homozygotes in severity
We argue that although the individuals carrying the single LPL pathogenic/likely pathogenic variant display the whole disease spectrum, the severe phenotype of heterozygotes with dominantly inherited LPL-related HTG may also exist.
Authors
- Karolina Kowalczyk (ORCID: https://orcid.org/0000-0003-1406-5211)
- Magdalena M. Kacprzak
- Paweł Aleksandrowicz (ORCID: https://orcid.org/0000-0003-2380-6800)
- Dominika Szczęśniak (ORCID: https://orcid.org/0000-0002-3518-268X)
- Magdalena Mroczek (ORCID: https://orcid.org/0000-0002-8731-0540)
- Lidia Kotuła (ORCID: https://orcid.org/0000-0001-7219-6872)
- Małgorzata Bednarska‐Makaruk (ORCID: https://orcid.org/0000-0003-4331-5232)
- Olga Drgas
Institutions
- Medical University of Lublin (PL)
- University of Basel (CH)
- University Hospital of Basel (CH)
- Institute of Psychiatry and Neurology (PL)
Publication Details
- Journal
- Archives of Medical Science
- Published
- 2025-04-26
- DOI
- https://doi.org/10.5114/aoms/201448
- Citations
- 1
- Primary Topic
- Lipid metabolism and disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.39