CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

With the rapid advancement of medical technologies in genomic and molecular medicine, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe autosomal recessive forms of neurodegenerative disorders caused by pathogenic variants in the C...

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Detalles Bibliográficos
Autores principales: Wong, Sheila Suet-Na, Yuen, Liz Yuet-Ping, Kan, Elaine, Blau, Nenad, Rodenburg, Richard, Lam, Ching-wan, Wong, Virginia Chun-Nei, Mochel, Fanny, Wevers, Ron A., Fung, Cheuk-Wing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696413/
http://dx.doi.org/10.1016/j.ymgmr.2023.101023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696413/
http://dx.doi.org/10.1016/j.ymgmr.2023.101023

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