Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W, Wang Y, Lu Y, Ye T, Song C, Xu Y, Li M, Ding J, Duan Y, Zhang L, Gu W, Zhao X, Yang XA, Jin D.
Tong W, et al.
Sci Rep. 2018 Mar 26;8(1):5214. doi: 10.1038/s41598-018-23503-2.
Sci Rep. 2018.
PMID: 29581464
Free PMC article.
Finally, diagnosis of methylmalonic aciduria and homocystinuria, glycogen storage disease, ornithine transcarbamylase deficiency, glutaric acidemia II, mitochondrial complex 1 deficiency, carnitine deficiency, and Schaaf-Yang syndrome was made in 12 out of th …
Finally, diagnosis of methylmalonic aciduria and homocystinuria, glycogen storage disease, ornithine transcarbamylase deficiency, glutaric a …