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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...

詳細記述

保存先:
書誌詳細
出版年:Medicine (Baltimore)
主要な著者: Cui, Dongqing, Liu, Yanxia, Jin, Liang, Hu, Liping, Cao, Lili
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
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