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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Detalles Bibliográficos
Autores principales: Cui, Dongqing, Liu, Yanxia, Jin, Liang, Hu, Liping, Cao, Lili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7593080/
https://www.ncbi.nlm.nih.gov/pubmed/32769929
http://dx.doi.org/10.1097/MD.0000000000021634

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7593080/
https://www.ncbi.nlm.nih.gov/pubmed/32769929
http://dx.doi.org/10.1097/MD.0000000000021634

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