A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male

We present a case study of a 20-year-old male with an unknown neurodegenerative disease who was referred to the Undiagnosed Diseases Network Vanderbilt Medical Center site. A previous metabolic panel showed that the patient had a critical deficiency in nicotinamide intermediates that are generated d...

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Detalles Bibliográficos
Autores principales: DeBalsi, Karen L., Newman, John H., Sommerville, Laura J., Phillips, John A., Hamid, Rizwan, Cogan, Joy, Fessel, Joshua P., Evans, Anne M., Network, Undiagnosed Diseases, Kennedy, Adam D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055858/
https://www.ncbi.nlm.nih.gov/pubmed/36984839
http://dx.doi.org/10.3390/metabo13030399

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055858/
https://www.ncbi.nlm.nih.gov/pubmed/36984839
http://dx.doi.org/10.3390/metabo13030399

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