Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review.

Gülreyhan Sonuç Kartal Merve Koç Yekedüz Engin Köse Fatma Tuba Eminoğlu

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2024)

Primary Coenzyme Q10 Deficiency-7 should be considered in the differential diagnosis of infants presenting with neurological and dysmorphic manifestations.

Keyphrases

replacement therapy
case report
brain injury