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