BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

507 related articles for article (PubMed ID: 30612563)

  • 1. A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
    Wang W; Yang J; Xue J; Mu W; Zhang X; Wu W; Xu M; Gong Y; Liu Y; Zhang Y; Xie X; Gu W; Bai J; Cram DS
    BMC Med Genet; 2019 Jan; 20(1):3. PubMed ID: 30612563
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
    Men S; Liu S; Zheng Q; Yang S; Mao H; Wang Z; Gu Y; Tang X; Wang L
    Mol Genet Genomic Med; 2023 Jun; 11(6):e2152. PubMed ID: 36787440
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Next generation sequencing as a follow-up test in an expanded newborn screening programme.
    Smon A; Repic Lampret B; Groselj U; Zerjav Tansek M; Kovac J; Perko D; Bertok S; Battelino T; Trebusak Podkrajsek K
    Clin Biochem; 2018 Feb; 52():48-55. PubMed ID: 29111448
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. The role of exome sequencing in newborn screening for inborn errors of metabolism.
    Adhikari AN; Gallagher RC; Wang Y; Currier RJ; Amatuni G; Bassaganyas L; Chen F; Kundu K; Kvale M; Mooney SD; Nussbaum RL; Randi SS; Sanford J; Shieh JT; Srinivasan R; Sunderam U; Tang H; Vaka D; Zou Y; Koenig BA; Kwok PY; Risch N; Puck JM; Brenner SE
    Nat Med; 2020 Sep; 26(9):1392-1397. PubMed ID: 32778825
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A retrospective analysis of MS/MS screening for IEM in high-risk areas.
    He X; Kuang J; Lai J; Huang J; Wang Y; Lan G; Xie Y; Shi X
    BMC Med Genomics; 2023 Mar; 16(1):57. PubMed ID: 36927542
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.
    Hao L; Liang L; Gao X; Zhan X; Ji W; Chen T; Xu F; Qiu W; Zhang H; Gu X; Han L
    Mol Genet Metab; 2024 Jan; 141(1):108098. PubMed ID: 38061323
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
    Thiboonboon K; Leelahavarong P; Wattanasirichaigoon D; Vatanavicharn N; Wasant P; Shotelersuk V; Pangkanon S; Kuptanon C; Chaisomchit S; Teerawattananon Y
    PLoS One; 2015; 10(8):e0134782. PubMed ID: 26258410
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Newborn Screening Program in the Community of Madrid: evaluation of positive cases.].
    Cambra Conejero A; Martínez Figueras L; Ortiz Temprado A; Blanco Soto P; Martín Rivada Á; Palomino Pérez L; Cañedo Villarroya E; Pedrón Giner C; Quijada Fraile P; Martín-Hernández E; García Silva MT; Chumillas Calzada S; Bellusci M; Belanger-Quintana A; Stanescu S; Martínez-Pardo Casanova M; Moráis López A; Bergua Martínez A; Ruiz-Salas P; Pérez González B; Ugarte M; Ruano MLF
    Rev Esp Salud Publica; 2020 Dec; 94():. PubMed ID: 33372917
    [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. Newborn screening for inborn errors of metabolism in a northern Chinese population.
    Liu G; Liu X; Lin Y
    J Pediatr Endocrinol Metab; 2023 Mar; 36(3):278-282. PubMed ID: 36662638
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
    Niu DM; Chien YH; Chiang CC; Ho HC; Hwu WL; Kao SM; Chiang SH; Kao CH; Liu TT; Chiang H; Hsiao KJ
    J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S295-305. PubMed ID: 20567911
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China.
    Yang CJ; Wei N; Li M; Xie K; Li JQ; Huang CG; Xiao YS; Liu WH; Chen XG
    BMC Pediatr; 2018 Mar; 18(1):110. PubMed ID: 29534692
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
    Magdy RM; Abd-Elkhalek HS; Bakheet MA; Mohamed MM
    Arch Pediatr; 2022 Jan; 29(1):36-43. PubMed ID: 34848132
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review.
    Pandor A; Eastham J; Beverley C; Chilcott J; Paisley S
    Health Technol Assess; 2004 Mar; 8(12):iii, 1-121. PubMed ID: 14982654
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
    Navarrete R; Leal F; Vega AI; Morais-López A; Garcia-Silva MT; Martín-Hernández E; Quijada-Fraile P; Bergua A; Vives I; García-Jiménez I; Yahyaoui R; Pedrón-Giner C; Belanger-Quintana A; Stanescu S; Cañedo E; García-Campos O; Bueno-Delgado M; Delgado-Pecellín C; Vitoria I; Rausell MD; Balmaseda E; Couce ML; Desviat LR; Merinero B; Rodríguez-Pombo P; Ugarte M; Pérez-Cerdá C; Pérez B
    Eur J Hum Genet; 2019 Apr; 27(4):556-562. PubMed ID: 30626930
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [New Inborn Errors of Metabolism added in the French program of neonatal screening].
    Touati G; Gorce M; Oliver-Petit I; Broué P; Ausseil J
    Med Sci (Paris); 2021 May; 37(5):507-518. PubMed ID: 34003097
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
    Yang N; Gong LF; Zhao JQ; Yang HH; Ma ZJ; Liu W; Wan ZH; Kong YY
    J Pediatr Endocrinol Metab; 2020 May; 33(5):639-645. PubMed ID: 32304307
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
    Narravula A; Garber KB; Askree SH; Hegde M; Hall PL
    Genet Med; 2017 Jan; 19(1):77-82. PubMed ID: 27308838
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
    Han LS; Ye J; Qiu WJ; Gao XL; Wang Y; Gu XF
    J Inherit Metab Dis; 2007 Aug; 30(4):507-14. PubMed ID: 17347912
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.