Tomáš Honzík

Hospital Sant Joan de Déu Barcelona — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index4.9kcitations187works1.42yr avg
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Research Topics

Metabolism and Genetic Disorders(70), Mitochondrial Function and Pathology(57), Glycosylation and Glycoproteins Research(24), ATP Synthase and ATPases Research(21), Lysosomal Storage Disorders Research(20)

Publications187 total

Synaptic networks shape clinical phenotypes in neurodevelopmental disorders: An integrative clinical, genetic and biological perspective
2026Open Access
The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
Brain·2025Open Access
Sequestration of the polyunsaturated fatty acids protects the cells with oxidative phosphorylation deficiency from ferroptosis
2025Open Access
Corrigendum to “Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]”
Molecular Genetics and Metabolism·2025Open Access
Gene thepapy of (selected) neurological diseases
Neurologie pro praxi·2025Open Access
A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency
European Journal of Pediatrics·2025· 1 citedOpen Access
A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic <i>MADD</i> variants
Blood·2025· 1 citedOpen Access
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future
Molecular Genetics and Metabolism·2025· 3 citedOpen Access
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Cellular and Molecular Life Sciences·2025· 4 citedOpen Access
Genetic and Structural Variations in Czech Patients With Congenital Myopathies
Clinical Genetics·2025· 1 citedOpen Access
Author response for "Genetic and Structural Variations in Czech Patients With Congenital Myopathies"
2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
2025Open Access
Insights Into the Pathological Glycosylation Associated With COG6‐CDG
Human Mutation·2025Open Access
Cryopreserved PBMCs can be used for the analysis of mitochondrial respiration and serve as a diagnostic tool for mitochondrial diseases
Analytical Biochemistry·2024· 3 citedOpen Access
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations
Journal of Inherited Metabolic Disease·2024· 6 citedOpen Access
A Novel Cause of Type 1 VWD: Impaired Exocytosis of Weibel-Palade Bodies Due to Biallelic Mutations in Madd
Blood·2024Open Access
Inherited disorders of lipid metabolism (lipoproteins, fatty acids, cholesterol and sphingolipids)
Česko-slovenská pediatrie·2024Open Access
Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis
Biochimica et Biophysica Acta (BBA) - Bioenergetics·2024
Human knock-down of COQ8A in HEK293 (COQ8A-KD) recapitulates mild mitochondrial-deficiency phenotype of female ARCA2 patient
Biochimica et Biophysica Acta (BBA) - Bioenergetics·2024
Large <i>TRAPPC11</i> gene deletions as a cause of muscular dystrophy and their estimated genesis
Journal of Medical Genetics·2024· 1 cited
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Frequent Co-authors

J Zeman(23), Hana Hansíková(22), Markéta Tesařová(17), Martin Magner(14), Sabine Scholl‐Bürgi(8), Jolanta Sykut‐Cegielska(8), Éva Morava(8), Stanislav Kmoch(7), Jaak Jaeken(7), Carlo Dionisi‐Vici(6), Stephanie Grünewald(6), Diego Martinelli(6), Viktor Stránecký(6), Peter Witters(6), Daniela Karall(5), Alberto Burlina(5), Johannes A. Mayr(5), Wolfgang Sperl(5), Nina Ondrušková(5), Ruqaiah Altassan(5)