A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome
Understanding and diagnosing hexokinase deficiency is critical for providing appropriate care and improving the quality of life for affected individuals.
Authors
- Konrad Wasilewski
- Beata Burzyńska (ORCID: https://orcid.org/0000-0003-1595-0036)
- Elżbieta Kamieńska
- Weronika Pawlik (ORCID: https://orcid.org/0000-0002-2104-9386)
- Magdalena Bartnik (ORCID: https://orcid.org/0000-0002-9533-3494)
- Tomasz Urasiński
Institutions
- Institute of Biochemistry and Biophysics, Polish Academy of Sciences (PL)
- Pomeranian Medical University (PL)
Publication Details
- Journal
- Genes
- Published
- 2024-12-07
- DOI
- https://doi.org/10.3390/genes15121576
- Primary Topic
- Neonatal Health and Biochemistry
- Type
- article
- Field-Weighted Citation Impact
- 0.00