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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...
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| Publié dans: | Medicine (Baltimore) |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Wolters Kluwer Health
2020
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| Sujets: | |
| Accès en ligne: | 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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