205 related articles for article (PubMed ID: 22231382)
1. Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.
Bross P; Frederiksen JB; Bie AS; Hansen J; Palmfeldt J; Nielsen MN; Duno M; Lund AM; Christensen E
J Inherit Metab Dis; 2012 Sep; 35(5):787-96. PubMed ID: 22231382
[TBL] [Abstract][Full Text] [Related]
2. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Schillaci LA; Greene CL; Strovel E; Rispoli-Joines J; Spector E; Woontner M; Scharer G; Enns GM; Gallagher R; Zinn AB; McCandless SE; Hoppel CL; Goodman SI; Bedoyan JK
Mol Genet Metab; 2016 Sep; 119(1-2):50-6. PubMed ID: 27397597
[TBL] [Abstract][Full Text] [Related]
3. Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
Zhang Y; Li H; Ma R; Mei L; Wei X; Liang D; Wu L
Clin Chim Acta; 2016 Jan; 453():75-9. PubMed ID: 26656312
[TBL] [Abstract][Full Text] [Related]
4. Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.
Ribeiro JV; Lucas TG; Bross P; Gomes CM; Henriques BJ
Biochim Biophys Acta Proteins Proteom; 2020 Jan; 1868(1):140269. PubMed ID: 31491587
[TBL] [Abstract][Full Text] [Related]
5. Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Kurkina MV; Mihaylova SV; Baydakova GV; Saifullina EV; Korostelev SA; Pyankov DV; Kanivets IV; Yunin MA; Pechatnikova NL; Zakharova EY
Metab Brain Dis; 2020 Aug; 35(6):1009-1016. PubMed ID: 32240488
[TBL] [Abstract][Full Text] [Related]
6. Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
Radha Rama Devi A; Ramesh VA; Nagarajaram HA; Satish SP; Jayanthi U; Lingappa L
Brain Dev; 2016 Jan; 38(1):54-60. PubMed ID: 26071121
[TBL] [Abstract][Full Text] [Related]
7. Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.
Gelener P; Severino M; Diker S; Teralı K; Tuncel G; Tuzlalı H; Manara E; Paolacci S; Bertelli M; Ergoren MC
Neurogenetics; 2020 Jul; 21(3):179-186. PubMed ID: 32306145
[TBL] [Abstract][Full Text] [Related]
8. Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene.
Peng HH; Shaw SW; Huang KG
Taiwan J Obstet Gynecol; 2018 Feb; 57(1):137-140. PubMed ID: 29458885
[TBL] [Abstract][Full Text] [Related]
9. Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
Biagosch C; Ediga RD; Hensler SV; Faerberboeck M; Kuehn R; Wurst W; Meitinger T; Kölker S; Sauer S; Prokisch H
Biochim Biophys Acta Mol Basis Dis; 2017 Sep; 1863(9):2220-2228. PubMed ID: 28545977
[TBL] [Abstract][Full Text] [Related]
10. Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.
Popek M; Walter M; Fernando M; Lindner M; Schwab KO; Sass JO
Clin Chim Acta; 2010 Dec; 411(23-24):2087-91. PubMed ID: 20836999
[TBL] [Abstract][Full Text] [Related]
11. The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Gonzalez Melo M; Remacle N; Cudré-Cung HP; Roux C; Poms M; Cudalbu C; Barroso M; Gersting SW; Feichtinger RG; Mayr JA; Costanzo M; Caterino M; Ruoppolo M; Rüfenacht V; Häberle J; Braissant O; Ballhausen D
Mol Genet Metab; 2021 Jun; 133(2):157-181. PubMed ID: 33965309
[TBL] [Abstract][Full Text] [Related]
12. [Progress of glutaric aciduria type I].
Gao JZ; Luo XP
Zhonghua Er Ke Za Zhi; 2012 Dec; 50(12):912-4. PubMed ID: 23324148
[No Abstract] [Full Text] [Related]
13. Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
Sitta A; Guerreiro G; de Moura Coelho D; da Rocha VV; Dos Reis BG; Sousa C; Vilarinho L; Wajner M; Vargas CR
Metab Brain Dis; 2021 Feb; 36(2):205-212. PubMed ID: 33064266
[TBL] [Abstract][Full Text] [Related]
14. Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.
Shadmehri AA; Fattahi N; Pourreza MR; Koohiyan M; Zarifi S; Darbouy M; Sharifi R; Tavakkoly Bazzaz J; Tabatabaiefar MA
J Cell Biochem; 2019 Mar; 120(3):3367-3372. PubMed ID: 30203563
[TBL] [Abstract][Full Text] [Related]
15. [Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
Wang Q; Yang YL
Zhongguo Dang Dai Er Ke Za Zhi; 2016 May; 18(5):460-5. PubMed ID: 27165598
[TBL] [Abstract][Full Text] [Related]
16. Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
Wang Q; Li X; Ding Y; Liu Y; Song J; Yang Y
Brain Dev; 2014 Oct; 36(9):813-22. PubMed ID: 24332224
[TBL] [Abstract][Full Text] [Related]
17. GAI - distinct genotype and phenotype characteristics in reported Slovak patients.
Lisyova J; Petrovic R; Jurickova K; Brennerova K; Urbanova D; Behulova D; Bzduch V; Chandoga J
Bratisl Lek Listy; 2016; 117(11):631-638. PubMed ID: 28125888
[TBL] [Abstract][Full Text] [Related]
18. Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
Vendramin Pasquetti M; Meier L; Loureiro S; Ganzella M; Junges B; Barbieri Caus L; Umpierrez Amaral A; Koeller DM; Goodman S; Woontner M; Gomes de Souza DO; Wajner M; Calcagnotto ME
Epilepsia; 2017 Oct; 58(10):1771-1781. PubMed ID: 28762469
[TBL] [Abstract][Full Text] [Related]
19. Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
Schmiesing J; Lohmöller B; Schweizer M; Tidow H; Gersting SW; Muntau AC; Braulke T; Mühlhausen C
Hum Mol Genet; 2017 Feb; 26(3):538-551. PubMed ID: 28062662
[TBL] [Abstract][Full Text] [Related]
20. [Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I].
Chen J; Wang ZX; Zhang JL; Yang YL; Chen J; Huang YN
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Aug; 28(4):374-8. PubMed ID: 21811973
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
