AICA ‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case
出版年份 2020 全文链接
标题
AICA
‐ribosiduria due to
ATIC
deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case
作者
关键词
-
出版物
JOURNAL OF INHERITED METABOLIC DISEASE
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2020-06-18
DOI
10.1002/jimd.12274
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome
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