A5050673033- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Folate and B Vitamins Research
- Genetics and Neurodevelopmental Disorders
- Biochemical and Molecular Research
- Peroxisome Proliferator-Activated Receptors
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Trypanosoma species research and implications
- Parathyroid Disorders and Treatments
- Diet and metabolism studies
- Genomics and Rare Diseases
- Glycosylation and Glycoproteins Research
- Epilepsy research and treatment
- Infectious Encephalopathies and Encephalitis
- Sexual function and dysfunction studies
- Genetic Syndromes and Imprinting
- Blood disorders and treatments
- Neonatal Health and Biochemistry
- Adipose Tissue and Metabolism
- Cystic Fibrosis Research Advances
- Pharmacological Effects and Toxicity Studies
- Vitamin K Research Studies
- Pancreatic and Hepatic Oncology Research
Institute of Public Health of Serbia
2014-2025
University of Belgrade
2001-2025
Centar za Promociju Nauke
1996-2022
Institut za Zdravstvenu Zastitu Majke i Deteta
2007-2020
Univerzitetski Klinički Centar Srbije
2014
We aimed to assess the current state of PKU screening and management in region southeastern Europe.A survey was performed involving all identified professionals responsible for 11 countries from South-Eastern Europe (Albania, Bulgaria, Bosnia Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire designed characteristics regarding three main areas: nation-wide characteristics, screening, responding centre. It consisted 56 questions....
Significant part of Southeastern Europe (with a population 76 million) has newborn screening (NBS) programs non-harmonised with developed European countries. Initial survey was conducted in 2013/2014 among 11 countries from the region to assess main characteristics their NBS and future plans. At that time, none had an expanded program, while phenylketonuria not introduced four congenital hypothyroidism three We repeated 2020 inviting same countries, adding Cyprus, Greece, Hungary Malta (due...
Childhood epilepsies are caused by heterogeneous underlying disorders where approximately 40% of the origins epilepsy can be attributed to genetic factors. The application next-generation sequencing (NGS) has revolutionized molecular diagnostics and enabled identification disease-causing genes variants in childhood epilepsies. objective this study was use NGS identify patients with epilepsy, expand variant spectrum discover potential therapeutic targets. In our study, 55 children unknown...
Abstract Phenylketonuria (PKU) is the most common inborn disorder of amino acid metabolism caused by biallelic pathogenic variants in phenylalanine hydroxylase (P AH ) gene. This study comprised genomic profiling and phenotypic characterization 131 Serbian PKU patients along with implications for BH4 therapy. By combining Sanger sequencing, MLPA WES re-analysis previously unsolved cases, we identified 38 different disease causing PAH gene classified them using ACMG guidelines. The frequent...
Background: Enamel matrix derivative (EMD) and autologous fibrinogen/fibronectin system (AFFS) are agents that have been shown to be effective in periodontal regeneration. Their use combination with graft materials, however, has not extensively examined. The purpose of this study was compare the clinical effectiveness bovine porous bone mineral (BPBM) used an EMD or AFFS as regenerative treatments for intrabony defects humans. Methods: Twenty‐three paired were surgically treated using a...
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analyzed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian Serbian (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). majority (71%), disease manifested infancy....
Phenylketonuria (PKU) is caused by mutations in the gene encoding phenylalanine hydroxylase (PAH) enzyme. Here, we report updated spectrum of PAH 61 Serbian PKU patients. By using both DGGE/DNA sequencing and PCR-RFLP, identified 26 disease-causing (detection rate 99%). The most frequent ones were p.L48S (31%), p.R408W (16.4%), p.P281L (6%), p.E390G (5.2%), p.I306V (5.2%). Homozygosity value indicated high heterogeneity population.To overcome possible pitfalls patients' phenotypic...
Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial dysfunction by keeping plasma phenylalanine concentrations within the recommended target range. It can be questioned, however, whether universal levels would result in optimal outcomes for all patients, as similar do not seem to have same consequences brain each PKU individual. To better understand inter-individual differences vulnerability high concentrations, we identify untreated and/or late-diagnosed...
Glycogen storage disease ( GSD ) type I is inborn metabolic characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion using Sanger and next‐generation sequencing NGS ). identified 28 Ib 5 Ia patients. In patients, III , VI IX cholesteryl‐ester Shwachman‐Diamond syndrome diagnoses were set . Incidences for estimated at 1:172 746 1:60 461 live‐births, respectively. Two variants G6PC gene: c. 247C >T (p. Arg83Cys 518T >C Leu173Pro...
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Caucasians. PKU caused by mutations gene encoding phenylalanine hydroxylase (PAH) enzyme. Here, we report spectrum and frequency PAH discuss genotype–phenotype correlation 34 unrelated patients with from Serbia Montenegro. Using both polymerase chain reaction–restriction fragment length polymorphism ‘broad‐range’ denaturing‐gradient gel electrophoresis/DNA sequencing analysis, 19 disease‐causing were...
Abstract Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy individuals with urea cycle disorders (UCDs), involve the risk iatrogenic growth failure. Limited evidence-based studies hamper our knowledge on effects proposed medical management in UCDs. We studied impact weight development 307 longitudinally followed by Urea Cycle Disorders Consortium (UCDC) European registry network for Intoxication type Metabolic Diseases (E-IMD). Intrauterine...
Rett syndrome (RTT) is a severe neurodevelopmental disorder. Bone manifestations of RTT include osteopenia and fractures. Studies addressing serum vitamin D levels in patients with are scarce.The goals this study were (1) to determine the prevalence deficiency RTT, (2) compare between those other neurological diseases, (3) explore correlation demographic clinical characteristics levels.Demographic included age, body mass index Z-score, mutation status, severity score, presence epilepsy,...
Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified nine unrelated organic acidurias (BCOA) patients. We detected eight previously described mutations: p.Asn219Tyr, p.Arg369His p.Val553Glyfs*17 MUT, p.Thr198Serfs*6 MMAA, p.Ile144_Leu181del PCCB, p.Gly288Valfs*11, p.Tyr438Asn BCKDHA p.Ala137Val BCKDHB gene....
Phenylketonuria (PKU) is an inborn error of metabolism caused by variants in the phenylalanine hydroxylase (PAH) gene and it characterized excessively high levels body fluids. PKU a paradigm for genetic disease that can be treated majority developed countries have population-based newborn screening. Thus, combination early diagnosis immediate initiation treatment has resulted normal intelligence patients. Although monogenic disease, decades research clinical practice shown correlation...