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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...
Autores principales: | Momosaki, Ken, Kido, Jun, Matsumoto, Shiro, Taniguchi, Atsuo, Akiyama, Tomoyuki, Sawada, Takaaki, Ozasa, Shiro, Nakamura, Kimitoshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2019
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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 |
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