- Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria2014 | 1. lékařská fakulta
- Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency2017 | 1. lékařská fakulta
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines2015 | 1. lékařská fakulta
- Cévní manifestace deficitu CBS v dospělosti2011 | 1. lékařská fakulta
- Homocystein jako rizikový faktor v psychiatrii2011 | 1. lékařská fakulta
- Klinický obraz S-adenosylhomocysteinhydrolázového deficitu připomíná deficit fosfomannomutázy 22012 | 1. lékařská fakulta
- Homocystein v etiopatogenezi depresivní poruchy a Alzheimerovy nemoci2013 | 1. lékařská fakulta
- Methioninový zátěžový test2001 | 3. lékařská fakulta
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency2017 | 1. lékařská fakulta
- Cystathionine β-Synthase (CBS) Deficiency: Genetics2018 | 1. lékařská fakulta
- Enzyme replacement with PEGylated cystathionine beta-synthase ameliorates homocystinuria in murine model2016 | 1. lékařská fakulta
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | 1. lékařská fakulta
- Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis2021 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Folate Deficiency Is Associated With Oxidative Stress, Increased Blood Pressure, and Insulin Resistance in Spontaneously Hypertensive Rats2013 | 1. lékařská fakulta
- Essential hypertension in adolescents: association with insulin resistance and with metabolism of homocysteine and vitamins2002 | 1. lékařská fakulta, 3. lékařská fakulta
- Newborn screening for homocystinurias: Recent recommendations versus current practice2019 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry2019 | 1. lékařská fakulta
- Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency2021 | 1. lékařská fakulta
- Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism2022 | 1. lékařská fakulta
- The Associations of Habitual Intake of Sulfur Amino Acids, Proteins and Diet Quality with Plasma Sulfur Amino Acid Concentrations: The Maastricht Study2023 | 1. lékařská fakulta