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Sara Bertok

Explore the profile of Sara Bertok including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 32
Citations 197
Followers 0
Related Specialties
General Medicine
Endocrinology
Pediatrics
Top 10 Co-Authors
Tadej Battelino
Mojca Zerjav Tansek
Marusa Debeljak
Urh Groselj
Jernej Kovac
Katarina Trebusak Podkrajsek
Magdalena Avbelj Stefanija
Ana Drole Torkar
Luca Lovrecic
Jaka Sikonja
Published In
Genes (Basel)
Zdr Varst
Mol Genet Metab Rep
Croat Med J
Mol Cytogenet
Affiliations
Soon will be listed here.
Recent Articles
1.
The Role of the Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy-A Case Report
Gorjanc T, Sikonja J, Drole Torkar A, Zerjav Tansek M, Kovac J, Bertok S, et al.
Genes (Basel) . 2025 Feb; 16(2). PMID: 40004439
Background/objectives: The microtubule-associated scaffold protein 1 () gene affects the microtubule stability and cell polarity in the heart and could thus lead to the development of left ventricular noncompaction (LVNC)....
2.
Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders
Drole Torkar A, Klinc A, Remec Z, Rankovic B, Bartolj K, Bertok S, et al.
Int J Neonatal Screen . 2025 Feb; 11(1). PMID: 39982343
Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal...
3.
Pathogenic variants in the gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature
Koce M, Fakin A, Markelj S, Debeljak M, Kovac J, Lisec A, et al.
Ophthalmic Genet . 2025 Feb; :1-8. PMID: 39927556
Background: The gene is one of many genes involved in the synthesis of proteins needed for cilium function. Ciliopathies are a group of disorders associated with the dysfunction of ciliary...
4.
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review
Kafol J, Strazisar B, Drole Torkar A, Homan M, Bertok S, Mlinaric M, et al.
Orphanet J Rare Dis . 2024 Dec; 19(1):496. PMID: 39736737
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor. Results: We present two related patients from...
5.
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana
Peterlin A, Bertok S, Writzl K, Lovrecic L, Maver A, Peterlin B, et al.
Life (Basel) . 2024 Sep; 14(9). PMID: 39337901
Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the use of chromosomal microarray analysis (CMA)...
6.
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
Stajer K, Kovac N, Sikonja J, Mlinaric M, Bertok S, Brecelj J, et al.
Mol Genet Metab Rep . 2023 Sep; 36:100986. PMID: 37670898
Phosphoribosylpyrophosphate synthetase 1 (PRS-I) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness...
7.
Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel variant: a case report and systematic literature review
Molk N, Bitenc M, Urlep D, Zerjav Tansek M, Bertok S, Trebusak Podkrajsek K, et al.
Front Med (Lausanne) . 2023 Jun; 10:1106441. PMID: 37384046
Background: Familial hypobetalipoproteinemia (FHBL) is an autosomal semi-dominant disorder usually caused by variants in the gene that frequently interferes with protein length. Clinical manifestations include malabsorption, non-alcoholic fatty liver disease,...
8.
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Saho R, Dolzan V, Zerjav Tansek M, Pastorakova A, Petrovic R, Knapkova M, et al.
Front Endocrinol (Lausanne) . 2023 Apr; 14:1134133. PMID: 37008950
Objective: To analyze the mutational spectrum, clinical characteristics, genotype-phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia....
9.
Challenges in establishing optimal pediatric palliative care at the university hospital in Slovenia
Meglic J, Lisec A, Lepej D, Loboda T, Bertok S, Lesnik Musek P, et al.
Eur J Pediatr . 2023 Jan; 182(3):1393-1401. PMID: 36680577
The integration of pediatric palliative care (PPC) should become a standard of care for all children with life-limiting and life-threatening illnesses. There are many barriers and misperceptions in pediatrics which...
10.
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A
Kavcic A, Homan M, Zivanovic M, Debeljak M, Butenko T, Drole Torkar A, et al.
Am J Case Rep . 2022 Nov; 23:e937220. PMID: 36333862
BACKGROUND Niemann-Pick disease (NPD) type A is an autosomal recessive lipid storage disorder caused by acid sphingomyelinase deficiency due to a mutation in the SMPD1 gene. Type A is the...