446 related articles for article (PubMed ID: 25190159)
1. [Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].
Wang Q; Ding Y; Liu Y; Li X; Wu T; Song J; Wang Y; Yang Y
Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):415-9. PubMed ID: 25190159
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].
Wen P-; Wang GB; Liu XH; Chen ZL; Shang Y; Cui D; Song P; Yuan Q; Chen SL; Liao JX; Li CR
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):642-7. PubMed ID: 23225040
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. [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]
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. Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
Mosaeilhy A; Mohamed MM; C GPD; El Abd HSA; Gamal R; Zaki OK; Zayed H
Metab Brain Dis; 2017 Oct; 32(5):1417-1426. PubMed ID: 28389991
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
Harting I; Neumaier-Probst E; Seitz A; Maier EM; Assmann B; Baric I; Troncoso M; Mühlhausen C; Zschocke J; Boy NP; Hoffmann GF; Garbade SF; Kölker S
Brain; 2009 Jul; 132(Pt 7):1764-82. PubMed ID: 19433437
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [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]
13. 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]
14. Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
Couce ML; López-Suárez O; Bóveda MD; Castiñeiras DE; Cocho JA; García-Villoria J; Castro-Gago M; Fraga JM; Ribes A
Eur J Paediatr Neurol; 2013 Jul; 17(4):383-9. PubMed ID: 23395213
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
[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. Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.
Zayed H; El Khayat H; Tomoum H; Khalifa O; Siddiq E; Mohammad SA; Gamal R; Shi Z; Mosailhy A; Zaki OK
Metab Brain Dis; 2019 Aug; 34(4):1231-1241. PubMed ID: 31062211
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]