Pavel Jesina

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 38 publications

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal: Journal of inherited metabolic disease
Published: January 16, 2026

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 31, 2025

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

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

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Journal: Journal of inherited metabolic disease
Published: February 14, 2025

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.

Journal: Journal of inherited metabolic disease
Published: September 04, 2023

Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment.

Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment.

Journal: Arthritis research & therapy
Published: June 06, 2023

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.

Journal: Redox biology
Published: September 30, 2022

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 19, 2022

Protective Effect of Sulforaphane on Oxidative Stress and Mitochondrial Dysfunction Associated with Status Epilepticus in Immature Rats.

Protective Effect of Sulforaphane on Oxidative Stress and Mitochondrial Dysfunction Associated with Status Epilepticus in Immature Rats.

Journal: Molecular neurobiology
Published: June 06, 2022

Postauthorization safety study of betaine anhydrous.

Postauthorization safety study of betaine anhydrous.

Journal: Journal of inherited metabolic disease
Published: January 14, 2022

Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.

Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.

Journal: Journal of inherited metabolic disease
Published: January 13, 2022

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

Journal: Nutrients
Published: July 30, 2021
Showing 1-12 of 38

Last Updated: 09/26/2026