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Succinylaminoimidazole carboxamide riboside
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The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers
2013 |
First Faculty of Medicine
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Short Communication.Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment.
2000 |
Faculty of Physical Education and Sport
publication
Adenylosuccinate lyase deficiency
2015 |
First Faculty of Medicine
publication
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots
2015 |
First Faculty of Medicine