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

Phosphoribosylpyrophosphate synthetase 1 (PRS—I) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10475845/ https://www.ncbi.nlm.nih.gov/pubmed/37670898 http://dx.doi.org/10.1016/j.ymgmr.2023.100986

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