BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 38187300)

  • 21. Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
    Wang T; Ma J; Zhang Q; Gao A; Wang Q; Li H; Xiang J; Wang B
    Front Genet; 2019; 10():1052. PubMed ID: 31737040
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Phenotypic and molecular features of Thai patients with primary carnitine deficiency.
    Liammongkolkul S; Boonyawat B; Vijarnsorn C; Tim-Aroon T; Wasant P; Vatanavicharn N
    Pediatr Int; 2023 Jan; 65(1):e15404. PubMed ID: 36321377
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.
    Lin Y; Wang W; Lin C; Zheng Z; Fu Q; Peng W; Chen D
    Orphanet J Rare Dis; 2021 Aug; 16(1):339. PubMed ID: 34344405
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Newborn screening for primary carnitine deficiency in Quanzhou, China.
    Lin W; Wang K; Zheng Z; Chen Y; Fu C; Lin Y; Chen D
    Clin Chim Acta; 2021 Jan; 512():166-171. PubMed ID: 33181153
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.
    Marsden D; Bedrosian CL; Vockley J
    Genet Med; 2021 May; 23(5):816-829. PubMed ID: 33495527
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
    Tan J; Chen D; Huang J; Chang R; Yan T; Cai R
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1067-1072. PubMed ID: 31703127
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Analysis of blood carnitine profile and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency].
    Song W; Ye S; Zheng L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):161-165. PubMed ID: 36709933
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
    Li H; Fukuda S; Hasegawa Y; Purevsuren J; Kobayashi H; Mushimoto Y; Yamaguchi S
    J Chromatogr B Analyt Technol Biomed Life Sci; 2010 Jun; 878(20):1669-72. PubMed ID: 20207594
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
    Wang ZQ; Chen XJ; Murong SX; Wang N; Wu ZY
    J Mol Med (Berl); 2011 Jun; 89(6):569-76. PubMed ID: 21347544
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.
    Baruteau J; Sachs P; Broué P; Brivet M; Abdoul H; Vianey-Saban C; Ogier de Baulny H
    J Inherit Metab Dis; 2013 Sep; 36(5):795-803. PubMed ID: 23053472
    [TBL] [Abstract][Full Text] [Related]  

  • 31. An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
    Lisyová J; Chandoga J; Jungová P; Repiský M; Knapková M; Machková M; Dluholucký S; Behúlová D; Šaligová J; Potočňáková Ľ; Lysinová M; Böhmer D
    BMC Med Genet; 2018 Apr; 19(1):64. PubMed ID: 29678161
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency.
    Chen Y; Lin Q; Zeng Y; Qiu X; Liu G; Zhu W
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1583. PubMed ID: 33560599
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
    Hu G; Zeng J; Wang C; Zhou W; Jia Z; Yang J; Zheng B
    Front Pediatr; 2020; 8():118. PubMed ID: 32292771
    [No Abstract]   [Full Text] [Related]  

  • 36. Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn.
    Lin Y; Lin W; Chen Y; Lin C; Zheng Z; Zhuang J; Fu Q
    BMC Pediatr; 2020 Oct; 20(1):478. PubMed ID: 33050909
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
    Miller MJ; Burrage LC; Gibson JB; Strenk ME; Lose EJ; Bick DP; Elsea SH; Sutton VR; Sun Q; Graham BH; Craigen WJ; Zhang VW; Wong LJ
    Mol Genet Metab; 2015 Nov; 116(3):139-45. PubMed ID: 26385305
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].
    Lin Y; Lin W; Yu K; Zheng F; Zheng Z; Fu Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb; 34(1):35-39. PubMed ID: 28186590
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening.
    Wang X; Fang H
    Pharmgenomics Pers Med; 2023; 16():577-587. PubMed ID: 37305019
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Law LK; Tang NL; Hui J; Fung SL; Ruiter J; Wanders RJ; Fok TF; Lam CW
    Clin Chim Acta; 2009 Jun; 404(2):95-9. PubMed ID: 19265687
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.