Works by Groselj, Urh
Results: 44
The Role of the MTUS1 Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy—A Case Report.
- Published in:
- Genes, 2025, v. 16, n. 2, p. 110, doi. 10.3390/genes16020110
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- Publication type:
- Article
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.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1134133
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- Publication type:
- Article
The time is now: Achieving FH paediatric screening across Europe – The Prague Declaration.
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- GMS Health Innovation & Technologies, 2022, v. 16, p. 1, doi. 10.3205/hta000136
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- Publication type:
- Article
Evaluation of Body Mass Index, Overweight and Obesity Status, and Cholesterol Levels in Younger Children.
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- JAMA Network Open, 2023, v. 6, n. 4, p. e238141, doi. 10.1001/jamanetworkopen.2023.8141
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- Publication type:
- Article
Analysis of Insulin Resistance Among Children and Adolescents in Slovenia With Hypercholesterolemia After Treatment With Statins.
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- JAMA Network Open, 2022, v. 5, n. 9, p. e2231097, doi. 10.1001/jamanetworkopen.2022.31097
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- Publication type:
- Article
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 561, doi. 10.1515/jpem-2015-0337
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- Publication type:
- Article
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03486-2
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- Publication type:
- Article
An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.
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- 2022
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- Publication type:
- Case Study
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 717, doi. 10.3390/genes13050717
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- Publication type:
- Article
Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program.
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- Genes, 2022, v. 13, n. 3, p. 517, doi. 10.3390/genes13030517
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- Publication type:
- Article
The concepts of assent and parental permission in pediatrics.
- Published in:
- 2014
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- Publication type:
- Letter
Screening in children for familial hypercholesterolaemia: start now.
- Published in:
- European Heart Journal, 2022, v. 43, n. 34, p. 3209, doi. 10.1093/eurheartj/ehac224
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- Publication type:
- Article
Editorial: Rare dyslipidemias.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1248435
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- Publication type:
- Article
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
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- 2022
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- Publication type:
- Case Study
Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 23, p. 12395, doi. 10.3390/ijerph182312395
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- Publication type:
- Article
Two Cases With an Early Presented Proopiomelanocortin Deficiency—A Long-Term Follow-Up and Systematic Literature Review.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.689387
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- Publication type:
- Article
The first nationwide study on facing and solving ethical dilemmas among healthcare professionals in Slovenia.
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- PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0235509
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- Publication type:
- Article
A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2 : a case report and literature review.
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- Journal of International Medical Research, 2020, v. 48, n. 8, p. 1, doi. 10.1177/0300060520936857
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- Publication type:
- Article
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
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- Journal of International Medical Research, 2018, v. 46, n. 4, p. 1339, doi. 10.1177/0300060517734123
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- Publication type:
- Article
Ethics of Vaccination in Childhood—A Framework Based on the Four Principles of Biomedical Ethics.
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- Vaccines, 2021, v. 9, n. 2, p. 113, doi. 10.3390/vaccines9020113
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- Publication type:
- Article
Attitudes of Slovene paediatricians to end-of-life care.
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- 2016
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- Publication type:
- journal article
Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia.
- Published in:
- 2019
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- Publication type:
- journal article
Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2487, doi. 10.3390/ijms24032487
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- Publication type:
- Article
Sex-Related Differences in Cardiovascular Disease Risk Profile in Children and Adolescents with Type 1 Diabetes.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10192, doi. 10.3390/ijms221910192
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- Publication type:
- Article
High-Sensitivity C-Reactive Protein and Carotid Intima Media Thickness as Markers of Subclinical Inflammation and Atherosclerosis in Pediatric Patients with Hypercholesterolemia.
- Published in:
- Molecules, 2020, v. 25, n. 21, p. 5118, doi. 10.3390/molecules25215118
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- Publication type:
- Article
Next-Generation Sequencing in Newborn Screening: A Review of Current State.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.662254
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- Publication type:
- Article
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.648493
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- Publication type:
- Article
Osilodrostat for Cushing Disease and Its Role in Pediatrics.
- Published in:
- Hormone Research in Paediatrics, 2023, v. 96, n. 6, p. 573, doi. 10.1159/000522054
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- Publication type:
- Article
Phenylketonuria screening and management in southeastern Europe -- survey results from 11 countries.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0283-0
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- Publication type:
- Article
Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.
- Published in:
- 2015
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- Publication type:
- journal article
Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
- Published in:
- Acta Chimica Slovenica, 2016, v. 63, n. 1, p. 33, doi. 10.17344/acsi.2015.1797
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- Publication type:
- Article
How health care professionals confront and solve ethical dilemmas - a tale of two countries: Slovenia and Croatia.
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- Croatian Medical Journal, 2021, v. 62, n. 2, p. 120, doi. 10.3325/cmj.2021.62.120
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- Publication type:
- Article
The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe.
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- 2013
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- Publication type:
- Letter
In ethics a model is important: interview with Professor Edmund D. Pellegrino.
- Published in:
- Theoretical Medicine & Bioethics, 2023, v. 44, n. 5, p. 533, doi. 10.1007/s11017-023-09650-2
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- Publication type:
- Article
Newborn Screening in a Pandemic—Lessons Learned.
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- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 21, doi. 10.3390/ijns9020021
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- Publication type:
- Article
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
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- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 31, doi. 10.3390/ijns8020031
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- Publication type:
- Article
A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.983283
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- Publication type:
- Article
Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.936121
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- Publication type:
- Article
ESCAP statement on the care for children and adolescents with gender dysphoria: an urgent need for safeguarding clinical, scientific, and ethical standards.
- Published in:
- European Child & Adolescent Psychiatry, 2024, v. 33, n. 6, p. 2011, doi. 10.1007/s00787-024-02440-8
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- Publication type:
- Article
Decreased prevalence of hypercholesterolemia and stabilisation of obesity trends in 5-year-old children: possible effects of changed public health policies.
- Published in:
- European Journal of Endocrinology, 2014, v. 170, n. 2, p. 293, doi. 10.1530/EJE-13-0566
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- Publication type:
- Article
Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.572176
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- Publication type:
- Article
Reye Syndrome with Severe Hyperammonemia and a Good Neurological Outcome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Case report: The success of empagliflozin therapy for glycogen storage disease type 1b.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1365700
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- Publication type:
- Article
Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1387419
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- Publication type:
- Article