3-Hydroxyisobutyryl-CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis

Hedyeh Saneifard,Asieh Mosallanejad,Aida Fallahzadeh,Ali Sheikhy

CLINICAL CASE REPORTS（2021）

引用 0|浏览0

暂无评分

摘要

Due to the rarity of this disorder, paying attention to diagnostic clues is important. Low valine formula seems to be effective in improvement of patient's symptoms. Prevention of consanguineous marriage is the best way to prevent this disease.

查看译文

关键词

3-hydroxyisobutyryl-CoA,acidosis,developmental disability,dystonia

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要