Category Archives: Issue 2/2023

Lesch-Nyhan syndrome due to a novel mutation in the HPRT1 gene

T. Ruskov, M. Sredkova, T. Delchev, T. Veleva, G. Zlatanova, S. Yankova, M. Gaydarova, D. Avdjieva-Tzavella

Neuroendocrine cell hyperplasia of infancy (NEHI) -a report of three cases

S. Mileva, R. Kabakchieva, B. Gospodinova, P. Kostova, V. Issaev

Monogenic craniosynostosis – basic genetic characteristicsand clinical cases

T. Delchev, Тs. Veleva, M. Sredkova, D. Avdjieva-Tzavella

Deep brain stimulation in a child with generalized dystonia and DYT1 mutation

K. Minkin, K. Gabrovski, P. Karazapryanov, Y. Milenova, T. Todorov, S. Atemin, A. Todorova, H. Milushev, V. Gergelcheva

Incidence and clinical characteristic of НMPV infection in childhood

A. Gotseva

Enteral Nutrition in Children with Short Bowel Syndrome

I. Yankov, I. Vladimirova, R. Shentova

Nephrotoxicity in Pediatric Oncology, Role of New Biomarkers for its Diagnosis

P. Markova, M. Spasova, P. Miteva-Shumnalieva

Carpal Тunnel Syndrome in Childhood

V. Papochieva, K. Papochiev, S. Papochiev, G. Georgiev

Chronic Immune Thrombocytopeniaas a Manifestation of Primary Immune Deficiency in Childhood

A. Banchev, S. Simeonova, B. Avramova, G. Petrova, P. Kostova, H. Burnusuzov, D. Konstantinov