Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

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Published in:Molecular genetics and metabolism reports 2023, Vol.36, p.100986-100986
Main Authors: Štajer, Katarina, Kovač, Neja, Šikonja, Jaka, Mlinarič, Matej, Bertok, Sara, Brecelj, Jernej, Debeljak, Maruša, Kovač, Jernej, Markelj, Gašper, Neubauer, David, Rus, Rina, Žerjav Tanšek, Mojca, Drole Torkar, Ana, Zver, Aleksandra, Battelino, Tadej, Jiménez Torres, Rosa, Grošelj, Urh
Format: Report
Language:English
Online Access:Get full text
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ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2023.100986