Tomáš Honzík

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen et al. · Journal of Inherited Metabolic Disease · 2021 · 270 citations · Full text

Life Sciences, Internal Medicine, Clinical Biochemistry +9

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 236 citations · Full text

Life Sciences, Biochemistry, Nephrology +12

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr et al. · Nature Genetics · 2008 · 200 citations

Life Sciences, Genetics, Neuroscience +16

Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency – What have we learned?

Tomáš Honzík, Miriam Adamovičová, Vratislav Smolka et al. · European Journal of Paediatric Neurology · 2010 · 157 citations

Public Health, Nutritional Sciences, Pediatrics +17

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

Eon Joo Park, Kariona A. Grabińska, Ziqiang Guan et al. · Cell Metabolism · 2014 · 143 citations · Full text

Life Sciences, Genetics, Molecular Biology +14