Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation

Eroglu F. K., ÖZALTIN F., Gonc N., Nalcacioglu H., Ozcakar Z. B., YALNIZOĞLU D., ...Daha Fazla

PEDIATRIC NEUROLOGY, cilt.88, ss.71-74, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 88
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.pediatrneurol.2018.07.008
  • Dergi Adı: PEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.71-74
  • Anahtar Kelimeler: Mitochondrial disease, COQ2 gene, CoQ10 deficiency, Coenzyme Q10, Respiratory chain disorders, CoQ10 supplementation, Ubiquinone, Neonatal diabetes, PLASMA
  • Hacettepe Üniversitesi Adresli: Evet

Özet

BACKGROUND: COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes.