BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 12651832)

  • 1. Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency.
    Trinh MU; Blake J; Harrison JR; Gerace R; Ranieri E; Fletcher JM; Johnson DW
    Clin Chem; 2003 Apr; 49(4):681-4. PubMed ID: 12651832
    [No Abstract]   [Full Text] [Related]  

  • 2. Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.
    Janzen N; Terhardt M; Sander S; Demirkol M; Gökçay G; Peter M; Lücke T; Sander J; Das AM
    Clin Chim Acta; 2014 Mar; 430():28-32. PubMed ID: 24370386
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.
    Cavicchi C; Malvagia S; la Marca G; Gasperini S; Donati MA; Zammarchi E; Guerrini R; Morrone A; Pasquini E
    J Pharm Biomed Anal; 2009 Jul; 49(5):1292-5. PubMed ID: 19359120
    [TBL] [Abstract][Full Text] [Related]  

  • 4. High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency.
    Auray-Blais C; Maranda B; Lavoie P
    Clin Chim Acta; 2014 Sep; 436():249-55. PubMed ID: 24909877
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report.
    Chiong MA; Carpenter K; Christodoulou J
    J Inherit Metab Dis; 2007 Jun; 30(3):405. PubMed ID: 17407001
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns.
    Wang D; Eadala B; Sadilek M; Chamoles NA; Turecek F; Scott CR; Gelb MH
    Clin Chem; 2005 May; 51(5):898-900. PubMed ID: 15695324
    [No Abstract]   [Full Text] [Related]  

  • 7. Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.
    Lee T; Yoshii K; Yoshida S; Suga T; Nakamura K; Sasai H; Murayama K; Kobayashi H; Hasegawa Y; Takeshima Y
    Clin Chim Acta; 2020 Nov; 510():633-637. PubMed ID: 32828733
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prenatal treatment of ornithine transcarbamylase deficiency.
    Wilnai Y; Blumenfeld YJ; Cusmano K; Hintz SR; Alcorn D; Benitz WE; Berquist WE; Bernstein JA; Castillo RO; Concepcion W; Cowan TM; Cox KL; Lyell DJ; Esquivel CO; Homeyer M; Hudgins L; Hurwitz M; Palma JP; Schelley S; Akula VP; Summar ML; Enns GM
    Mol Genet Metab; 2018 Mar; 123(3):297-300. PubMed ID: 29396029
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
    Hartung B; Temme O; Neuen-Jacob E; Ritz-Timme S; Hinderhofer K; Daldrup T
    Int J Legal Med; 2016 May; 130(3):783-5. PubMed ID: 26753873
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Plasma glutamine concentration: a guide in the management of urea cycle disorders.
    Maestri NE; McGowan KD; Brusilow SW
    J Pediatr; 1992 Aug; 121(2):259-61. PubMed ID: 1640294
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Mass spectrometry and neonatal screening].
    Garnotel R
    Ann Biol Clin (Paris); 2015; 73(1):107-11. PubMed ID: 25582727
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
    Shao Y; Jiang M; Lin Y; Mei H; Zhang W; Cai Y; Su X; Hu H; Li X; Liu L
    Clin Genet; 2017 Sep; 92(3):318-322. PubMed ID: 28266016
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Under recognition of late onset ornithine transcarbamylase deficiency.
    Schultz RE; Salo MK
    Arch Dis Child; 2000 May; 82(5):390-1. PubMed ID: 10799432
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The use of mass spectrometry to analyze dried blood spots.
    Wagner M; Tonoli D; Varesio E; Hopfgartner G
    Mass Spectrom Rev; 2016; 35(3):361-438. PubMed ID: 25252132
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Newborn screening by tandem mass spectrometry: a new era.
    Levy HL
    Clin Chem; 1998 Dec; 44(12):2401-2. PubMed ID: 9836702
    [No Abstract]   [Full Text] [Related]  

  • 16. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.
    Li Y; Brockmann K; Turecek F; Scott CR; Gelb MH
    Clin Chem; 2004 Mar; 50(3):638-40. PubMed ID: 14981030
    [No Abstract]   [Full Text] [Related]  

  • 17. Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.
    Mhanni AA; Prasad C; Rockman-Greenberg C
    Pediatr Emerg Care; 2011 Sep; 27(9):850-3. PubMed ID: 21926883
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
    Zytkovicz TH; Fitzgerald EF; Marsden D; Larson CA; Shih VE; Johnson DM; Strauss AW; Comeau AM; Eaton RB; Grady GF
    Clin Chem; 2001 Nov; 47(11):1945-55. PubMed ID: 11673361
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients.
    Burlina AB; Ogier H; Korall H; Trefz FK
    Mol Genet Metab; 2001 Apr; 72(4):351-5. PubMed ID: 11286510
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry.
    Chace DH; Hillman SL; Millington DS; Kahler SG; Adam BW; Levy HL
    Clin Chem; 1996 Mar; 42(3):349-55. PubMed ID: 8598094
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.