Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
- Resource Type
- 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
- Source
- In Molecular Genetics and Metabolism Reports September 2023 36
- Subject
- Language
- ISSN
- 2214-4269