Role of RNA in Molecular Diagnosis of MADD Patients.
ETFDH
MADD
NBS
RNA
glutaric aciduria type II
β-oxidation
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
04 May 2021
04 May 2021
Historique:
received:
31
03
2021
revised:
23
04
2021
accepted:
30
04
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
3
6
2021
Statut:
epublish
Résumé
The electron-transfer flavoprotein dehydrogenase gene (
Identifiants
pubmed: 34064479
pii: biomedicines9050507
doi: 10.3390/biomedicines9050507
pmc: PMC8147995
pii:
doi:
Types de publication
Case Reports
Langues
eng
Références
J Neurol Neurosurg Psychiatry. 2010 Feb;81(2):231-6
pubmed: 19758981
Wiley Interdiscip Rev RNA. 2013 May-Jun;4(3):247-66
pubmed: 23512601
JIMD Rep. 2018;38:33-40
pubmed: 28456887
Crit Rev Biochem Mol Biol. 2021 Apr 7;:1-12
pubmed: 33823724
Mol Genet Metab. 2002 Sep-Oct;77(1-2):86-90
pubmed: 12359134
Hum Mutat. 2003 Jul;22(1):12-23
pubmed: 12815589
Medicine (Baltimore). 2018 Nov;97(48):e13153
pubmed: 30508893
Am J Hum Genet. 2007 Jul;81(1):87-103
pubmed: 17564966
Nat Methods. 2010 Aug;7(8):575-6
pubmed: 20676075
Nat Rev Drug Discov. 2012 Jan 20;11(2):125-40
pubmed: 22262036
Genet Med. 2011 Mar;13(3):230-54
pubmed: 21325949
J Inherit Metab Dis. 2019 Sep;42(5):878-889
pubmed: 31268564
JIMD Rep. 2014;13:1-14
pubmed: 24190796
J Inherit Metab Dis. 1996;19(3):379-80
pubmed: 8803790
Orphanet J Rare Dis. 2014 Jul 22;9:117
pubmed: 25200064
Eur J Hum Genet. 2019 Apr;27(4):556-562
pubmed: 30626930
JIMD Rep. 2019;45:37-44
pubmed: 30311138
Nat Rev Drug Discov. 2011 Aug 01;10(8):621-37
pubmed: 21804598
Trends Mol Med. 2012 Aug;18(8):472-82
pubmed: 22819011
Mol Genet Metab. 2008 Jan;93(1):36-9
pubmed: 17977044
Clin Sci (Lond). 2017 Mar 1;131(5):355-368
pubmed: 28202748
Medicine (Baltimore). 2020 Sep 11;99(37):e21944
pubmed: 32925727
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
pubmed: 23315928
Curr Mol Med. 2019;19(7):487-493
pubmed: 31418342
Brain. 2007 Aug;130(Pt 8):2045-54
pubmed: 17584774
Ann Lab Med. 2018 Nov;38(6):616-618
pubmed: 30027710
Nat Protoc. 2009;4(7):1073-81
pubmed: 19561590
Brain Dev. 2016 Mar;38(3):293-301
pubmed: 26403312