Tag Archives: 2

Pediatric cataract in the context of syndromicdiseases – presentation of two clinical cases

R. Dzhambazov1, I. Vezenkova, N. Veleva1,2, Ya. Zdravkov1,2, Y. Kaneva1,2, A. Oskar1,2 |
1 Clinic of Eye Diseases, University Hospital “Aleksandrovska” – Sofia
2 Department of Ophthalmology, Medical University – Sofia
3 Medical University – Sofia

Laser-induced maculopathy in the pediatric population

Y. Kaneva1,2, N. Veleva1,2, G. Dimitrov1,2, A. Levi1,2, G. Dimitrova1,2, A. Oskar1,2
1Clinic of Eye Diseases, University Hospital “Aleksandrovska” −
Sofia
2 Department of Ophthalmology, Medical University −
Sofia

Two clinical cases of Pitt-Hopkins syndrome

T. Aleksandrova1, T. Delchev1, 2, Ts. Veleva1, 2, D. Avdjieva-Tzavella1, 2
1Department of Clinical genetics, SBAL Children’s Hospital „Prof. Dr. Ivan Mitev“
2Medical University – Sofia

Treatment of spinal muscular atrophy with genetherapy: a clinical case

T. Paneva1,2, M. Krasteva2, V. Varbanova2, D. Stamatov2, G. Tacheva1,2, I. Litvinenko1,2
1 Department of Pediatrics, Faculty of Medicine, Medical University – Sofia
2 Clinic of Pediatric Neurology, SBAL for Children’s Diseases “Prof. Ivan Mitev” – Sofia

PTEN-hamartoma Tumor Syndrome – Genetic Basis and Clinical Cases

T. Delchev1,2, D. Atova1,2, T. Ruskov1, M. Sredkova1, Ts. Veleva1,2, D. Avdjieva-Tzavella1,2 |
1 Department of Clinical genetics, SBALDB University Pediatric Hospital, Sofia, Bulgaria |
2 Department of Pediatrics, Medical University of Sofia, Bulgaria

Women and Girls, Heterozygotes for the Hemophilia A and Hemophilia B gene

G. Tomova1,2, E. Peteva1,2, M. Belcheva1,2 |
1 Clinic of Pediatric Clinical Hematology and Oncology, University Hospital “St. Marina” – Varna |
2 Department of Pediatrics, Medical University “Prof. Dr. P. Stoyanov” – Varna

Spectrum of TWNK-related Diseaseswith Presentation of the First Genetically Verified case of a Patientwith Mutations in the TWNK Genein Bulgaria

M. Koleva, G. Tacheva, S. Atemin, Т. Todorov, I. Litvinenko, V. Bojinova