Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 1 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Your search was processed without automatic term mapping because it retrieved zero results.
Page 1
Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.
Front Genet. 2022 Jan 28;12:791869. doi: 10.3389/fgene.2021.791869. eCollection 2021.
Front Genet. 2022.
PMID: 35154245
Free PMC article.
Here, tandem mass spectrometry (MS/MS) was applied to screen 302,993 neonates for inherited metabolic diseases (IMD) in Ningbo of China from 2017 to 2020. The results suggest that 198 newborns (0.7) were initially screened positive for IBDHD with C4-Carnitine, and 2 …
Here, tandem mass spectrometry (MS/MS) was applied to screen 302,993 neonates for inherited metabolic diseases (IMD) in Ningbo of China from …
PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.
Yang Q, Hua R, Qian J, Yi S, Shen F, Zhang Q, Li M, Yi S, Luo J, Fan X.
Yang Q, et al.
Front Genet. 2020 Mar 11;11:198. doi: 10.3389/fgene.2020.00198. eCollection 2020.
Front Genet. 2020.
PMID: 32218803
Free PMC article.
Item in Clipboard
Cite
Cite