Publications
- The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers2013 | First Faculty of Medicine
- Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency2010 | First Faculty of Medicine
- Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP2010 | First Faculty of Medicine
- D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.2008 | First Faculty of Medicine
- Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency2008 | First Faculty of Medicine
- Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency: Observation of 6 Patients in 4 Families2007 | First Faculty of Medicine
- Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency2005 | First Faculty of Medicine
- Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenght cDNA and its isoform, gene structure and bomelular basis for ADSL deficiency in six patients2000 | First Faculty of Medicine
- Short Communication.Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment.2000 | Faculty of Physical Education and Sport
- Neonatal presentation of adenylosuccinate lyase deficientyPublication without faculty affiliation
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