BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 36068006)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLC-MS/MS.
    Minkler PE; Stoll MSK; Ingalls ST; Hoppel CL
    Mol Genet Metab; 2017 Apr; 120(4):363-369. PubMed ID: 28190699
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. [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]  

  • 11. 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]  

  • 12. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
    Jager EA; Kuijpers MM; Bosch AM; Mulder MF; Gozalbo ER; Visser G; de Vries M; Williams M; Waterham HR; van Spronsen FJ; Schielen PCJI; Derks TGJ
    J Inherit Metab Dis; 2019 Sep; 42(5):890-897. PubMed ID: 31012112
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
    Janzen N; Hofmann AD; Schmidt G; Das AM; Illsinger S
    Orphanet J Rare Dis; 2017 Dec; 12(1):187. PubMed ID: 29268767
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
    Anderson DR; Viau K; Botto LD; Pasquali M; Longo N
    Mol Genet Metab; 2020 Jan; 129(1):13-19. PubMed ID: 31836396
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
    Lin Y; Zhang W; Chen Z; Lin C; Lin W; Fu Q; Peng W; Chen D
    J Pediatr Endocrinol Metab; 2021 May; 34(5):649-652. PubMed ID: 33823107
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.