ロード中...
A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine synthesis resulting in cerebral creatine depletion. We present a 38-year-old patient, the first Japanese case of GAMT deficiency. Developmental delay started after a few months of age with a marked delay in language,...
保存先:
| 主要な著者: | , , , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer International Publishing
2013
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3897789/ https://ncbi.nlm.nih.gov/pubmed/23846910 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_245 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|