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 |
---|---|
2016 | 2 |
2022 | 1 |
2024 | 0 |
PubMed (cited) for id: 617186
3 results
Results by year
Filters applied: . Clear all
Page 1
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Mol Genet Metab. 2022 Jun;136(2):101-110. doi: 10.1016/j.ymgme.2022.04.003. Epub 2022 Apr 18.
Mol Genet Metab. 2022.
PMID: 35637064
Free PMC article.
Review.
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H.
Kremer LS, et al.
Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8.
Am J Hum Genet. 2016.
PMID: 27616477
Free PMC article.
Item in Clipboard
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
Spiegel R, Shaag A, Shalev S, Elpeleg O.
Spiegel R, et al.
Neurogenetics. 2016 Jul;17(3):187-90. doi: 10.1007/s10048-016-0483-3. Epub 2016 Apr 28.
Neurogenetics. 2016.
PMID: 27122014
Item in Clipboard
Cite
Cite