BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 24795062)

  • 1. A Korean patient with glutaric aciduria type 1 with a novel mutation in the glutaryl CoA dehydrogenase gene.
    Kim HS; Yu HJ; Lee J; Park HD; Kim JH; Shin HJ; Jin DK; Lee M
    Ann Clin Lab Sci; 2014; 44(2):213-6. PubMed ID: 24795062
    [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. 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]  

  • 4. [Mutation analysis of GCDH gene in four patients with glutaric academia type I].
    Liu Q; Chen Y; Chen W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr; 32(2):187-91. PubMed ID: 25863083
    [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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. [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]  

  • 13. 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]  

  • 14. COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1.
    Zubarioglu T; Ahmadzada S; Yalcinkaya C; Kiykim E; Aktuglu-Zeybek C
    J Pediatr Endocrinol Metab; 2021 Dec; 34(12):1611-1614. PubMed ID: 34517439
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I].
    Shi X; Ke Z; Zheng A; Xie W; Mo G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):608-11. PubMed ID: 25297592
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
    Shaik M; T P KV; Kamate M; A B V
    Indian J Pediatr; 2019 Nov; 86(11):995-1001. PubMed ID: 31302874
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.
    Gürbüz BB; Yılmaz DY; Coşkun T; Tokatlı A; Dursun A; Sivri HS
    Eur J Med Genet; 2020 Nov; 63(11):104032. PubMed ID: 32777384
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 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. Glutaric aciduria type 1 in Korea: report of two novel mutations.
    Park JD; Lim B; Kim KJ; Hwang YS; Kim SK; Kang SH; Cho SI; Park SS; Lee JS; Chae JH
    J Korean Med Sci; 2010 Jun; 25(6):957-60. PubMed ID: 20514322
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.