Tomáš Honzík - Concepedia

Author

Tomáš Honzík

Also Known As

Angeles García-Cazorla, Francjan van Spronsen, Honzik, Tomas, Stacey Tay Kiat Hong, T Honzík, T. HONZIK, T. Honzik, T. Honzík, Tomas Honzik, Tomas Honzík

187

Publications

4.9K

Citations

H-Index

114

Concepts

All Affiliations

Charles University General University Hospital in Prague Heidelberg University University College London Centre for Biomedical Network Research on Rare Diseases

About

Tomáš Honzík is an author at Charles University specializing in medicine, genetics, and mitochondrial function.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	31	1.8K
2	Health Sciences	5	5	195
3	Natural Sciences	3	3	120
4	Public Health	2	2	170
5	Engineering	1	1	80

Tomáš Honzík

Publications

3.3K

Citations

H-Index

Page 1

	Year	Citations
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision Patrick Forny, Friederike Hörster, Diana Ballhausen, Journal of Inherited Metabolic Disease Critical Care MedicineTransplant OutcomesMetabolic DisorderPropionic AcidaemiaExpert Panel	2021	247
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina, Journal of Inherited Metabolic Disease	2015	229
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy Alena Čížková, Viktor Stránecký, Johannes A. Mayr, Nature Genetics Mitochondrial MyopathyNeonatal Mitochondrial EncephalocardiomyopathyMitochondrial BiogenesisMitochondrial FunctionGenetics	2008	197
Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency – What have we learned? Tomáš Honzík, Miriam Adamovičová, Vratislav Smolka, European Journal of Paediatric Neurology NutritionClinical PresentationBreastfed InfantsPublic HealthMicronutrient Supplementation	2010	157
Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation Eon Joo Park, Kariona A. Grabińska, Ziqiang Guan, Cell Metabolism Signal TransductionMendelian DisorderG Protein-coupled ReceptorGenetic DisorderGenetics	2014	138
DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling Markus Schueler, Daniela A. Braun, Gayathri Chandrasekar, The American Journal of Human Genetics HepatologyLiver PhysiologyRenal InflammationPathologyDcdc2 Mutations Cause	2014	118
Clinical Effect And Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease Manisha Balwani, Catherine Breen, Gregory M. Enns, Hepatology	2013	116
Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency Vassili Valayannopoulos, Vĕra Malinová, Tomáš Honzík, Journal of Hepatology	2014	95
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis Tomáš Honzík, Markéta Tesařová, Martin Magner, Journal of Inherited Metabolic Disease	2012	82
Revisiting mitochondrial diagnostic criteria in the new era of genomics Peter Witters, Ann Saada, Tomáš Honzík, Genetics in Medicine Genetic AnalysisMitochondrial Diagnostic CriteriaDna SequencingEngineeringMitochondrial Function	2017	80

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