Tomáš Honzík
Charles University(CZ)Antwerp University Hospital(BE)General University Hospital in Prague(CZ)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Glycosylation and Glycoproteins Research, ATP Synthase and ATPases Research, Lysosomal Storage Disorders Research
Most-Cited Works
- → Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia(2014)703 cited
- → Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision(2021)258 cited
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype(2015)233 cited
- → TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy(2008)197 cited
- → Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency – What have we learned?(2010)157 cited
- → Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies(2020)145 cited