Clinical and Genetic Characteristics of a Patient with Phosphoribosyl Pyrophosphate Synthetase 1 Deficiency and a Systematic Literature Review
Katarina Štajer(Ljubljana University Medical Centre), Urh Grošelj(Flinders University), Gašper Markelj(Ljubljana University Medical Centre), Neja Kovač(University of Ljubljana), Jaka Šikonja(University of Ljubljana), Tadej Battelino(University of Ljubljana), Jernej Brecelj(University of Ljubljana), Maruša Debeljak(University of Ljubljana), David Neubauer(Ljubljana University Medical Centre), Ana Drole Torkar(University of Ljubljana), Rosa J. Torres(Instituto de Salud Carlos III), Sara Bertok(Ljubljana University Medical Centre), Aleksandra Zver, Mojca Žerjav Tanšek(University of Ljubljana), Rina Rus(Ljubljana University Medical Centre), Jernej Kovač(University of Ljubljana), Matej Mlinarič(Ljubljana University Medical Centre)
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