Clinical and Genetic Characteristics of a Patient with Phosphoribosyl Pyrophosphate Synthetase 1 Deficiency and a Systematic Literature Review

Autor:	Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinaric, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovac, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa J. Torres, Urh Groselj
Rok vydání:	2023
DOI:	10.2139/ssrn.4416283
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::426a4ea4010e088de1b0a7af07792e1a https://doi.org/10.2139/ssrn.4416283 Zobrazit plný text záznamu