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

Authors: Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj

Source: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100986- (2023)

Subject Terms: Phosphoribosylpyrophosphate synthetase 1, PRPS1, PRS-I super-activity, PRS-I deficiency, Arts syndrome, X-linked Charcot-Marie-Tooth neuropathy type 5, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000320; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/50a4fddc3e394652a0dc8f01a9ee15fc