BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 36096209)

  • 1. Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China.
    Tian Y; Zhu X; Lv S; Jia C; Zhang L; Ni M; Xu Y; Peng R; Liu S; Zhao D
    Clin Chim Acta; 2022 Nov; 536():155-161. PubMed ID: 36096209
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.
    Li YY; Xu J; Sun XC; Li HY; Mu K
    J Pediatr Endocrinol Metab; 2022 Oct; 35(10):1264-1271. PubMed ID: 36068006
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
    Li Y; Zhu R; Liu Y; Song J; Xu J; Yang Y
    Pediatr Int; 2019 Jun; 61(6):551-557. PubMed ID: 31033143
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
    Al-Hassnan ZN; Imtiaz F; Al-Amoudi M; Rahbeeni Z; Al-Sayed M; Al-Owain M; Al-Zaidan H; Al-Odaib A; Rashed MS
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S263-7. PubMed ID: 20567907
    [TBL] [Abstract][Full Text] [Related]  

  • 5. MCAD deficiency in Denmark.
    Andresen BS; Lund AM; Hougaard DM; Christensen E; Gahrn B; Christensen M; Bross P; Vested A; Simonsen H; Skogstrand K; Olpin S; Brandt NJ; Skovby F; Nørgaard-Pedersen B; Gregersen N
    Mol Genet Metab; 2012 Jun; 106(2):175-88. PubMed ID: 22542437
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Screening and follow-up results of neonate medium-chain acyl-CoA dehydrogenase deficiency in Zibo, Shandong province.
    Dong L; Ji C; Xu J; Cui Y
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Jun; 51(3):284-289. PubMed ID: 36207830
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
    Maier EM; Liebl B; Röschinger W; Nennstiel-Ratzel U; Fingerhut R; Olgemöller B; Busch U; Krone N; v Kries R; Roscher AA
    Hum Mutat; 2005 May; 25(5):443-52. PubMed ID: 15832312
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.
    Woo HI; Park HD; Lee YW; Lee DH; Ki CS; Lee SY; Kim JW
    Korean J Lab Med; 2011 Jan; 31(1):54-60. PubMed ID: 21239873
    [TBL] [Abstract][Full Text] [Related]  

  • 9. First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.
    Liang C; Jiang M; Sheng H; Cai Y; Wu D; Yin X; Peng M; Liu L
    J Pediatr Endocrinol Metab; 2015 May; 28(5-6):681-4. PubMed ID: 25503862
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
    Bentler K; Zhai S; Elsbecker SA; Arnold GL; Burton BK; Vockley J; Cameron CA; Hiner SJ; Edick MJ; Berry SA;
    Mol Genet Metab; 2016 Sep; 119(1-2):75-82. PubMed ID: 27477829
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
    Catarzi S; Caciotti A; Thusberg J; Tonin R; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA; Baronio F; Guerrini R; Mooney SD; Morrone A
    ScientificWorldJournal; 2013; 2013():625824. PubMed ID: 24294134
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
    Kennedy S; Potter BK; Wilson K; Fisher L; Geraghty M; Milburn J; Chakraborty P
    BMC Pediatr; 2010 Nov; 10():82. PubMed ID: 21083904
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP].
    Tong F; Jiang PP; Yang RL; Huang XL; Zhou XL; Hong F; Qian GL; Zhao ZY; Shu Q
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 Jan; 21(1):52-57. PubMed ID: 30675864
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
    Van Calcar SC; Baker MW; Williams P; Jones SA; Xiong B; Thao MC; Lee S; Yang MK; Rice GM; Rhead W; Vockley J; Hoffman G; Durkin MS
    Mol Genet Metab; 2013; 110(1-2):111-5. PubMed ID: 23712021
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
    Yang C; Shi C; Zhou C; Wan Q; Zhou Y; Chen X; Jin X; Huang C; Xu P
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2021 Aug; 50(4):472-480. PubMed ID: 34704412
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.
    Khalid JM; Oerton J; Cortina-Borja M; Andresen BS; Besley G; Dalton RN; Downing M; Green A; Henderson M; Leonard J; Dezateux C;
    J Med Screen; 2008; 15(3):112-7. PubMed ID: 18927092
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
    Oerton J; Khalid JM; Besley G; Dalton RN; Downing M; Green A; Henderson M; Krywawych S; Leonard J; Andresen BS; Dezateux C
    J Med Screen; 2011; 18(4):173-81. PubMed ID: 22166308
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
    Yusupov R; Finegold DN; Naylor EW; Sahai I; Waisbren S; Levy HL
    Mol Genet Metab; 2010 Sep; 101(1):33-9. PubMed ID: 20580581
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.
    Grosse SD; Khoury MJ; Greene CL; Crider KS; Pollitt RJ
    Genet Med; 2006 Apr; 8(4):205-12. PubMed ID: 16617240
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
    Couce ML; Sánchez-Pintos P; Diogo L; Leão-Teles E; Martins E; Santos H; Bueno MA; Delgado-Pecellín C; Castiñeiras DE; Cocho JA; García-Villoria J; Ribes A; Fraga JM; Rocha H
    Orphanet J Rare Dis; 2013 Jul; 8():102. PubMed ID: 23842438
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.