Cargando…

The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report

Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND experience involuntary movements, including dystonia, choreoathetosis, opisthotonos, ballismus, and self-injury. Alleviating these involuntary move...

Descripción completa

Detalles Bibliográficos
Autores principales: Momosaki, Ken, Kido, Jun, Matsumoto, Shiro, Taniguchi, Atsuo, Akiyama, Tomoyuki, Sawada, Takaaki, Ozasa, Shiro, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787411/
https://www.ncbi.nlm.nih.gov/pubmed/31607891
http://dx.doi.org/10.1159/000502568