Jiri Zeman
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 132 publications
Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease.
Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2026
Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.
Journal: Research square
Published: April 03, 2026
Long-term follow-up and response to elosulfase alfa in mucopolysaccharidosis type IVA: a single-center cohort from the Czech Republic.
Journal: Orphanet journal of rare diseases
Published: March 04, 2026
Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.
Journal: Molecular genetics and metabolism reports
Published: October 09, 2025
The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated Individuals.
Journal: Hormone research in paediatrics
Published: October 01, 2025
Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis.
Journal: Journal of inherited metabolic disease
Published: February 17, 2025
Cryopreserved PBMCs can be used for the analysis of mitochondrial respiration and serve as a diagnostic tool for mitochondrial diseases.
Journal: Analytical biochemistry
Published: September 19, 2024
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.
Journal: Journal of inherited metabolic disease
Published: June 06, 2024
Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis.
Journal: Journal of medical genetics
Published: March 26, 2024
The NAD+ Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease.
Journal: International journal of biological sciences
Published: October 28, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Journal: Molecular genetics and metabolism
Published: July 15, 2023
Last Updated: 09/26/2026