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adsl deficiency
Publication
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Person
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publication
Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP
2010 |
First Faculty of Medicine
publication
Pathway-specific effects of ADSL deficiency on neurodevelopment
2022 |
First Faculty of Medicine
publication
The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation
2019 |
First Faculty of Medicine
publication
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency
2012 |
First Faculty of Medicine
publication
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenght cDNA and its isoform, gene structure and bomelular basis for ADSL deficiency in six patients
2000 |
First Faculty of Medicine
publication
Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies
2018 |
First Faculty of Medicine
publication
Mass spectrometric analysis of purine de novo biosynthesis intermediates
2018 |
First Faculty of Medicine
publication
Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency
2010 |
First Faculty of Medicine
publication
D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.
2008 |
First Faculty of Medicine
publication
D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.
2008 |
Publication without faculty affiliation
publication
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency
2011 |
First Faculty of Medicine
publication
Adenylosuccinate lyase deficiency
2015 |
First Faculty of Medicine
publication
Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis
2022 |
First Faculty of Medicine