Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long‐term outcomes
These results emphasize the crucial role of early detection and family screening in the prevention of life-threatening complications associated with CDSP. Long-term carnitine therapy improves metabolic and cardiac outcomes, underscoring the need for early intervention and inclusion of CDSP in national newborn screening programs.
Authors
- Mehmet Şerif Cansever (ORCID: https://orcid.org/0000-0003-3315-5124)
- Tanyel Zübarioğlu (ORCID: https://orcid.org/0000-0002-7159-4008)
- Ayşe Çiğdem Aktuğlu Zeybek (ORCID: https://orcid.org/0000-0001-7256-0750)
- Ertuğrul Kıykım (ORCID: https://orcid.org/0000-0001-5170-5594)
- Eymen Pınar (ORCID: https://orcid.org/0000-0002-5466-0915)
- Hanım Babazade
- Kağan Çalışgan (ORCID: https://orcid.org/0000-0002-8645-5975)
Institutions
- Istanbul University-Cerrahpaşa (TR)
- Istanbul University (TR)
Publication Details
- Journal
- Pediatrics International
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1111/ped.70211
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00