ロード中...
A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report
INTRODUCTION: Arginineemia, also known as arginase deficiency, is a rare autosomal recessive metabolic disease. The diagnosis sometimes may be delayed due to atypical clinical manifestations. Confirmation of arginineemia depends on genetic testing. PATIENT CONCERNS: We reported a Chinese male child...
保存先:
| 出版年: | Medicine (Baltimore) |
|---|---|
| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wolters Kluwer Health
2020
|
| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7593080/ https://ncbi.nlm.nih.gov/pubmed/32769929 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000021634 |
| 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!
|