V. Škopová

发表

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.

S. Kmoch, V. Barešová, M. Krijt, 2015, Clinical biochemistry.

Mass spectrometric analysis of purine de novo biosynthesis intermediates

J. Václavík, T. Adam, D. Friedecký, 2018, PloS one.

Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies

S. Kmoch, V. Barešová, M. Krijt, 2018, PloS one.

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency

S. Kmoch, A. Hnízda, J. Krijt, 2010, Human mutation.

Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.

S. Kmoch, D. Patterson, V. Barešová, 2012, Human molecular genetics.

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

K. Hodaňová, H. Hartmannová, S. Kmoch, 2018, Rheumatology.

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.

S. Kmoch, D. Patterson, G. Vacano, 2011, Molecular genetics and metabolism.

CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation.

S. Kmoch, V. Barešová, M. Krijt, 2016, Molecular genetics and metabolism.

Pathway-specific effects of ADSL deficiency on neurodevelopment

C. Boeckx, M. Burkhalter, M. Philipp, 2022, eLife.

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

S. Lyonnet, S. Kmoch, U. Steuerwald, 2019, Human molecular genetics.

Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds

S. Kmoch, A. Bleyer, V. Barešová, 2022, Metabolites.

Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders.

S. Kmoch, D. Patterson, G. Vacano, 2013, Molecular genetics and metabolism.

Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment.

V. Barešová, M. Krijt, M. Zikánová, 2019, Folia biologica.

The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.

S. Kmoch, V. Adámková, A. Jurecka, 2013, Clinical biochemistry.

Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application

M. Hersberger, M. Poms, Alessio Cremonesi, 2023, Clinical chemistry and laboratory medicine.