Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

Autor: Dimitrova-Mladenova MS; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria. Electronic address: mihaela_mail@abv.bg., Stefanova EM; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Glushkova M; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Todorova AP; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Todorov T; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Konstantinova MM; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Kazakova K; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Tincheva RS; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria.

Publikováno v: The Journal of pediatrics [J Pediatr] 2016 Dec; Vol. 179, pp. 263-265. Date of Electronic Publication: 2016 Sep 15.

First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.

Autor: Avdjieva-Tzavella DM, Ivanova MB, Todorov TP, Todorova AP, Panteleeva EI, Tincheva SS, Lazarova EA, Kathom HM, Yaneva PG, Tincheva RS

Publikováno v: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2014; Vol. 25 (3), pp. 271-6.

Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.

Autor: Hornby, Brittany¹ (AUTHOR), Thompson, William Reid² (AUTHOR), Almuqbil, Mohammed³ (AUTHOR), Manuel, Ryan⁴ (AUTHOR), Abbruscato, Anthony⁵ (AUTHOR), Carr, Jim⁵ (AUTHOR), Vernon, Hilary J.⁴ (AUTHOR) hvernon1@jhmi.edu

Publikováno v: Orphanet Journal of Rare Diseases. 9/2/2022, Vol. 17 Issue 1, p1-9. 9p.

MKRN3 Gen Mutasyonu ile İlişkili Ailesel Santral Puberte Prekoks Olgusu.

Autor: Filibeli, Berna Eroğlu¹ bernafilibeli@gmail.com, Ayrancı, İlkay¹, Manyas, Hayrullah¹, Kırbıyık, Özgür², Dündar, Bumin N.³, Çatlı, Gönül³

Publikováno v: Journal of Current Pediatrics / Guncel Pediatri. Apr2022, Vol. 20 Issue 1, p97-102. 6p.

Symptomatic eating epilepsy: two novel pediatric patients and review of literature.

Autor: Vercellino, Fabiana¹ (AUTHOR) fvercellino@ospedale.al.it, Siri, Laura² (AUTHOR), Brisca, Giacomo³ (AUTHOR), Scala, Marcello^4,5 (AUTHOR), Riva, Antonella^4,5 (AUTHOR), Severino, Mariasavina⁶ (AUTHOR), Striano, Pasquale^4,5 (AUTHOR)

Publikováno v: Italian Journal of Pediatrics. 6/12/2021, Vol. 47 Issue 1, p1-7. 7p.