Mojca Z. Tansek
Ljubljana, Slovenia
Last Updated: 09/26/2026
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Found 15 publications
Branched-chain amino acid transferase 2 (BCAT2) deficiency: A case series and systematic review.
Journal: Molecular genetics and metabolism reports
Published: November 01, 2025
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 25, 2022
Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH4)-responsiveness in patients with hyperphenylalaninemia.
Journal: Data in brief
Published: November 29, 2021
A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.
Journal: The Journal of international medical research
Published: August 12, 2020
Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.
Journal: Zdravstveno varstvo
Published: April 17, 2020
Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures.
Journal: Balkan journal of medical genetics : BJMG
Published: November 15, 2018
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: August 21, 2015
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Journal: Biochemia medica
Published: October 15, 2014
Newborn screening in southeastern Europe.
Journal: Molecular genetics and metabolism
Published: July 16, 2014
Fifty years of phenylketonuria newborn screening - A great success for many, but what about the rest?
Journal: Molecular genetics and metabolism
Published: July 15, 2014
Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.
Journal: Journal of medical biochemistry
Published: April 15, 2014
Mutation analysis in mild hyperphenylalaninemia (HPA) patients - whom and what to screen?
Journal: Clinical biochemistry
Published: October 08, 2013
Last Updated: 09/26/2026