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 *

167 related articles for article (PubMed ID: 36481189)

  • 1. The modern face of newborn screening.
    Chien YH; Hwu WL
    Pediatr Neonatol; 2023 Feb; 64 Suppl 1():S22-S29. PubMed ID: 36481189
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mass spectrometry in clinical chemistry: the case of newborn screening.
    la Marca G
    J Pharm Biomed Anal; 2014 Dec; 101():174-82. PubMed ID: 24844843
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.
    Giugliani R
    J Inherit Metab Dis; 2012 Sep; 35(5):871-7. PubMed ID: 22231381
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanded newborn screening by mass spectrometry: New tests, future perspectives.
    Ombrone D; Giocaliere E; Forni G; Malvagia S; la Marca G
    Mass Spectrom Rev; 2016; 35(1):71-84. PubMed ID: 25952022
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Newborn screening of mucopolysaccharidosis type I.
    Burlina AB; Gragnaniello V
    Crit Rev Clin Lab Sci; 2022 Jun; 59(4):257-277. PubMed ID: 35037566
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. How longitudinal observational studies can guide screening strategy for rare diseases.
    Mütze U; Mengler K; Boy N; Gleich F; Opladen T; Garbade SF; Kölker S
    J Inherit Metab Dis; 2022 Sep; 45(5):889-901. PubMed ID: 35488475
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Pilot study of newborn screening for six lysosomal diseases in Brazil.
    Kubaski F; Sousa I; Amorim T; Pereira D; Silva C; Chaves V; Brusius-Facchin AC; Netto ABO; Soares J; Vairo F; Poletto E; Trometer J; Souza A; Ranieri E; Polo G; Hong X; Herbst ZM; Burlina A; Gelb MH; Giugliani R
    Mol Genet Metab; 2023; 140(1-2):107654. PubMed ID: 37507255
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Increased detection of primary carnitine deficiency through second-tier newborn genetic screening.
    Lin Y; Zhang W; Huang C; Lin C; Lin W; Peng W; Fu Q; Chen D
    Orphanet J Rare Dis; 2021 Mar; 16(1):149. PubMed ID: 33757571
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
    Frazier DM; Millington DS; McCandless SE; Koeberl DD; Weavil SD; Chaing SH; Muenzer J
    J Inherit Metab Dis; 2006 Feb; 29(1):76-85. PubMed ID: 16601872
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
    Wasserstein MP; Caggana M; Bailey SM; Desnick RJ; Edelmann L; Estrella L; Holzman I; Kelly NR; Kornreich R; Kupchik SG; Martin M; Nafday SM; Wasserman R; Yang A; Yu C; Orsini JJ
    Genet Med; 2019 Mar; 21(3):631-640. PubMed ID: 30093709
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program.
    Lim JS; Tan ES; John CM; Poh S; Yeo SJ; Ang JS; Adakalaisamy P; Rozalli RA; Hart C; Tan ET; Ranieri E; Rajadurai VS; Cleary MA; Goh DL
    Mol Genet Metab; 2014; 113(1-2):53-61. PubMed ID: 25102806
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.
    la Marca G; Giocaliere E; Malvagia S; Funghini S; Ombrone D; Della Bona ML; Canessa C; Lippi F; Romano F; Guerrini R; Resti M; Azzari C
    J Pharm Biomed Anal; 2014 Jan; 88():201-6. PubMed ID: 24076575
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
    Hart K; Rohrwasser A; Wallis H; Golsan H; Shao J; Anderson T; Wang X; Szabo-Fresnais N; Morrissey M; Kay DM; Wojcik M; Galvin-Parton PA; Longo N; Caggana M; Pasquali M
    Mol Genet Metab; 2021; 134(1-2):60-64. PubMed ID: 34389248
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Multiplexing Homocysteine into First-Tier Newborn Screening Mass Spectrometry Assays Using Selective Thiol Derivatization.
    Pickens CA; Courtney E; Isenberg SL; Cuthbert C; Petritis K
    Clin Chem; 2023 Apr; 69(5):470-481. PubMed ID: 36920064
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Combining First and Second-Tier Newborn Screening in a Single Assay Using High-Throughput Chip-Based Capillary Electrophoresis Coupled to High-Resolution Mass Spectrometry.
    Austin Pickens C; Isenberg SL; Cuthbert C; Petritis K
    Clin Chem; 2021 Nov; 67(12):1709-1720. PubMed ID: 34606607
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.