Tomas Honzik
Prague, PR 12808, Czech Republic
Last Updated: 09/26/2026
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Found 111 publications
Pilot Newborn Screening for Vitamin B12 Deficiency in the Czech Republic: Results and Detailed Studies on Identified Babies and Their Mothers.
Journal: International journal of neonatal screening
Published: February 06, 2026
Corrigendum to "Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]".
Journal: Molecular genetics and metabolism
Published: October 15, 2025
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
Context-aware synthetic promoter design using neural networks enables rewiring of eukaryotic transcriptional networks.
Journal: NPJ systems biology and applications
Published: September 29, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency.
Journal: European journal of pediatrics
Published: June 17, 2025
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Journal: Molecular genetics and metabolism
Published: May 01, 2025
Genetic and Structural Variations in Czech Patients With Congenital Myopathies.
Journal: Clinical genetics
Published: April 01, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.
Journal: Cellular and molecular life sciences : CMLS
Published: February 06, 2025
Insights Into the Pathological Glycosylation Associated With COG6-CDG.
Journal: Human mutation
Published: January 20, 2025
Last Updated: 09/26/2026