Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye
The association between the BTD genotype and biochemical phenotype is not always consistent. Our study provides valuable data by adding variants with genotype-phenotype correlations to the literature and three novel variants, which can provide significant guidance in clinical follow-up.
Authors
- Emine İpek Ceylan (ORCID: https://orcid.org/0000-0002-8716-3288)
- Sebile Kılavuz (ORCID: https://orcid.org/0000-0002-7527-2620)
- Tijen Tanyalçın (ORCID: https://orcid.org/0000-0003-2191-4007)
- Kısmet Çıkı (ORCID: https://orcid.org/0000-0002-6800-8848)
- Ceren Alavanda (ORCID: https://orcid.org/0000-0002-7327-3849)
Institutions
- Izmir University (TR)
- Ankara Onkoloji Eğitim ve Araştırma Hastanesi (TR)
- Education Training And Research (US)
- Hacettepe University (TR)
- Marmara University (TR)
Publication Details
- Journal
- The Turkish Journal of Pediatrics
- Published
- 2024-11-11
- DOI
- https://doi.org/10.24953/turkjpediatr.2024.5075
- Citations
- 3
- Primary Topic
- Biotin and Related Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.98