S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review

Phospho‐ribosyl‐pyrophosphate synthetase 1 (PRPS1) deficiency is secondary to loss of function variants in PRPS1. This enzyme generates phospho‐ribosyl‐pyrophosphate (PRPP), which is utilized in the synthesis of purines, nicotinamide adenine dinucleotide (NAD), and NAD phosphate (NADP), among other...

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Detalles Bibliográficos
Autores principales: Lee, Angela, Knox, Renatta, Reynolds, Margaret, McRoy, Erin, Nguyen, Hoanh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623096/
https://www.ncbi.nlm.nih.gov/pubmed/37927483
http://dx.doi.org/10.1002/jmd2.12395

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623096/
https://www.ncbi.nlm.nih.gov/pubmed/37927483
http://dx.doi.org/10.1002/jmd2.12395

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