The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group
All patients presenting with neuropathy and gait disorders should undergo detailed tonsil examinations and HDL tests. Genetic analysis should be carried out if necessary. Family screening should be recommended to patients with consanguineous marriages after diagnosis of TD.
Authors
- Banu Kadıoğlu Yılmaz (ORCID: https://orcid.org/0000-0002-5521-7659)
- Ayten Güleç (ORCID: https://orcid.org/0000-0002-4968-9326)
- Pembe Soylu Üstkoyuncu (ORCID: https://orcid.org/0000-0001-9867-1280)
- Fatih Kardaş (ORCID: https://orcid.org/0000-0002-2276-7611)
- Hüseyin Per (ORCID: https://orcid.org/0000-0001-9904-6479)
- Hakan Gümüş (ORCID: https://orcid.org/0000-0001-5896-074X)
- Muhammet Ensar Doğan (ORCID: https://orcid.org/0000-0002-5034-7083)
- Selcan Öztürk (ORCID: https://orcid.org/0000-0002-3517-2983)
Institutions
- Selçuk University (TR)
- Kayseri Eğitim ve Araştırma Hastanesi (TR)
- Erciyes University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-01-16
- DOI
- https://doi.org/10.1515/jpem-2024-0335
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00