Publikace
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | 1. lékařská fakulta
- Pitfalls of X-chromosome inactivation testing in females with Fabry disease2022 | 1. lékařská fakulta
- X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations2021 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
- Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient2020 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
- LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?2018 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
- Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency2018 | 1. lékařská fakulta, Ústřední knihovna
- Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II2017 | 1. lékařská fakulta
- Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency2017 | 1. lékařská fakulta
- X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female2016 | 1. lékařská fakulta
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