These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

514 related articles for article (PubMed ID: 27578510)

  • 1. A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
    Park KJ; Park S; Lee E; Park JH; Park JH; Park HD; Lee SY; Kim JW
    Ann Lab Med; 2016 Nov; 36(6):561-72. PubMed ID: 27578510
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Next-generation sequencing as a second-tier diagnostic test for newborn screening.
    Luo X; Wang R; Fan Y; Gu X; Yu Y
    J Pediatr Endocrinol Metab; 2018 Aug; 31(8):927-931. PubMed ID: 30030962
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.
    Ko JM; Park KS; Kang Y; Nam SH; Kim Y; Park I; Chae HW; Lee SM; Lee KA; Kim JW
    Yonsei Med J; 2018 Jul; 59(5):652-661. PubMed ID: 29869463
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Next-generation sequencing based newborn screening and comparative analysis with MS/MS.
    Shen G; Li W; Zhang Y; Chen L
    BMC Pediatr; 2024 Apr; 24(1):230. PubMed ID: 38561707
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Insights into National Laboratory Newborn Screening and Future Prospects.
    Mujamammi AH
    Medicina (Kaunas); 2022 Feb; 58(2):. PubMed ID: 35208595
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
    Boemer F; Fasquelle C; d'Otreppe S; Josse C; Dideberg V; Segers K; Guissard V; Capraro V; Debray FG; Bours V
    Sci Rep; 2017 Dec; 7(1):17641. PubMed ID: 29247206
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Newborn screening for inherited metabolic diseases using tandem mass spectrometry in China: Outcome and cost-utility analysis.
    Zhao Z; Chen C; Sun X; Zhou D; Huang X; Dong H
    J Med Screen; 2022 Mar; 29(1):12-20. PubMed ID: 34102920
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
    Yang RL; Qian GL; Wu DW; Miao JK; Yang X; Wu BQ; Yan YQ; Li HB; Mao XM; He J; Shen H; Zou H; Xue SY; Li XZ; Niu TT; Xiao R; Zhao ZY
    World J Pediatr; 2023 Jul; 19(7):663-673. PubMed ID: 36847978
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
    Huang X; Wu D; Zhu L; Wang W; Yang R; Yang J; He Q; Zhu B; You Y; Xiao R; Zhao Z
    Orphanet J Rare Dis; 2022 Feb; 17(1):66. PubMed ID: 35193651
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Inborn errors of metabolism and expanded newborn screening: review and update.
    Mak CM; Lee HC; Chan AY; Lam CW
    Crit Rev Clin Lab Sci; 2013 Nov; 50(6):142-62. PubMed ID: 24295058
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns.
    Luo X; Sun Y; Xu F; Guo J; Li L; Lin Z; Ye J; Gu X; Yu Y
    Ann Transl Med; 2020 Sep; 8(17):1058. PubMed ID: 33145277
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
    Veldman A; Kiewiet MBG; Heiner-Fokkema MR; Nelen MR; Sinke RJ; Sikkema-Raddatz B; Voorhoeve E; Westra D; Dollé MET; Schielen PCJI; van Spronsen FJ
    Int J Neonatal Screen; 2022 Feb; 8(1):. PubMed ID: 35323196
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.
    Peng G; Shen P; Gandotra N; Le A; Fung E; Jelliffe-Pawlowski L; Davis RW; Enns GM; Zhao H; Cowan TM; Scharfe C
    Genet Med; 2019 Apr; 21(4):896-903. PubMed ID: 30209273
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
    Tajima G; Hara K; Tsumura M; Kagawa R; Okada S; Sakura N; Maruyama S; Noguchi A; Awaya T; Ishige M; Ishige N; Musha I; Ajihara S; Ohtake A; Naito E; Hamada Y; Kono T; Asada T; Sasai H; Fukao T; Fujiki R; Ohara O; Bo R; Yamada K; Kobayashi H; Hasegawa Y; Yamaguchi S; Takayanagi M; Hata I; Shigematsu Y; Kobayashi M
    Mol Genet Metab; 2017 Nov; 122(3):67-75. PubMed ID: 28801073
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Novel Clinico-Biochemical Score for Screening of Inherited Metabolic Diseases in Children.
    Ali O; Hafeez A; Ijaz A; Lodhi MA; Nawaz MA; Ahmed Z
    J Coll Physicians Surg Pak; 2018 Nov; 28(11):853-857. PubMed ID: 30369378
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Inherited metabolic rare disease.
    Pampols T
    Adv Exp Med Biol; 2010; 686():397-431. PubMed ID: 20824458
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
    Lee H; Lim J; Shin JE; Eun HS; Park MS; Park KI; Namgung R; Lee JS
    Yonsei Med J; 2019 Nov; 60(11):1061-1066. PubMed ID: 31637888
    [TBL] [Abstract][Full Text] [Related]  

  • 19. DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
    Park KJ; Park HK; Kim YJ; Lee KR; Park JH; Park JH; Park HD; Lee SY; Kim JW
    Ann Lab Med; 2016 Mar; 36(2):145-53. PubMed ID: 26709262
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Differential diagnostics of inherited metabolic disorders in newborns.
    Znamenska TK; Vorobiova OV; Holota ТV; Kryvosheieva VV; Pokhylko VI
    Wiad Lek; 2020; 73(6):1211-1216. PubMed ID: 32723955
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.