Works by Zerjav Tansek, Mojca
Results: 25
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
- By:
- 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
- By:
- Publication type:
- Article
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 561, doi. 10.1515/jpem-2015-0337
- By:
- Publication type:
- Article
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03486-2
- By:
- Publication type:
- Article
Obesity Due to Proopiomelanocortin Deficiency: Three New Cases and Treatment Trials with Thyroid Hormone and ACTH4 –10.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 10, p. 4633, doi. 10.1210/jc.2003-030502
- By:
- Publication type:
- Article
Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.
- Published in:
- 2003
- By:
- Publication type:
- journal article
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
- By:
- Publication type:
- Article
Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program.
- Published in:
- Genes, 2022, v. 13, n. 3, p. 517, doi. 10.3390/genes13030517
- By:
- Publication type:
- Article
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population/Selektivni Skrining Metaboličkih Poremećaja Kod Dečije Populacije U Sloveniji.
- Published in:
- Journal of Medical Biochemistry, 2014, v. 34, n. 1, p. 58, doi. 10.2478/jomb-2014-0056
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- Publication type:
- Article
A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2 : a case report and literature review.
- Published in:
- Journal of International Medical Research, 2020, v. 48, n. 8, p. 1, doi. 10.1177/0300060520936857
- By:
- Publication type:
- Article
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
- Published in:
- Journal of International Medical Research, 2018, v. 46, n. 4, p. 1339, doi. 10.1177/0300060517734123
- By:
- Publication type:
- Article
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 3, p. 153, doi. 10.1159/000433468
- By:
- Publication type:
- 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.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2487, doi. 10.3390/ijms24032487
- By:
- 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
- By:
- Publication type:
- Article
Phenylketonuria screening and management in southeastern Europe -- survey results from 11 countries.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0283-0
- By:
- Publication type:
- Article
Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.
- Published in:
- 2015
- By:
- 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
- By:
- Publication type:
- Article
Neonatal Thyrotoxicosis in Infants of Mothers with Graves' Disease Treated for Radioiodine-Induced Hypothyroidism: A Literature Review.
- Published in:
- Children, 2024, v. 11, n. 8, p. 968, doi. 10.3390/children11080968
- By:
- Publication type:
- Article
Reye Syndrome with Severe Hyperammonemia and a Good Neurological Outcome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
- Published in:
- Biochemia Medica, 2015, v. 25, n. 2, p. 279, doi. 10.11613/BM.2015.029
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
A New Case of an Extremely Rare 3p21.31 Interstitial Deletion.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 2, p. 93, doi. 10.1159/000445227
- By:
- Publication type:
- Article