BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

300 related articles for article (PubMed ID: 20440648)

  • 1. Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
    Shigematsu Y; Hata I; Tajima G
    J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S283-8. PubMed ID: 20440648
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
    la Marca G; Malvagia S; Pasquini E; Innocenti M; Donati MA; Zammarchi E
    Clin Chem; 2007 Jul; 53(7):1364-9. PubMed ID: 17510301
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia.
    Shigematsu Y; Hata I; Tanaka Y
    Clin Chim Acta; 2007; 386(1-2):82-6. PubMed ID: 17850781
    [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. Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.
    Malvagia S; Haynes CA; Grisotto L; Ombrone D; Funghini S; Moretti E; McGreevy KS; Biggeri A; Guerrini R; Yahyaoui R; Garg U; Seeterlin M; Chace D; De Jesus VR; la Marca G
    Clin Chim Acta; 2015 Oct; 450():342-8. PubMed ID: 26368264
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
    Monostori P; Klinke G; Richter S; Baráth Á; Fingerhut R; Baumgartner MR; Kölker S; Hoffmann GF; Gramer G; Okun JG
    PLoS One; 2017; 12(9):e0184897. PubMed ID: 28915261
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.
    Al-Dirbashi OY; McIntosh N; Chakraborty P
    J Med Screen; 2017 Jun; 24(2):58-61. PubMed ID: 27216769
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [False positive on neonatal screening: C5-carnitin increase in newborns due to pre-labour treatment with cefditoren pivoxil].
    Fernández Ruano ML; Besga García B; Montero Plata A; Dulín Íñiguez E
    Rev Esp Salud Publica; 2018 Jun; 92():. PubMed ID: 29863107
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia].
    Wu SN; Han LS; Ye J; Qiu WJ; Zhang HW; Gao XL; Wang Y; Li XY; Xu H; Gu XF
    Zhonghua Yi Xue Za Zhi; 2013 Feb; 93(8):561-5. PubMed ID: 23663331
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Elevation of pivaloylcarnitine by sivelestat sodium in two children.
    Yamada K; Kobayashi H; Bo R; Takahashi T; Hasegawa Y; Nakamura M; Ishige N; Yamaguchi S
    Mol Genet Metab; 2015 Nov; 116(3):192-4. PubMed ID: 26428892
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
    Couce ML; Aldamiz-Echevarría L; Bueno MA; Barros P; Belanger-Quintana A; Blasco J; García-Silva MT; Márquez-Armenteros AM; Vitoria I; Vives I; Navarrete R; Fernández-Marmiesse A; Pérez B; Pérez-Cerdá C
    J Hum Genet; 2017 Mar; 62(3):355-360. PubMed ID: 27904153
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
    Dionisi-Vici C; Deodato F; Röschinger W; Rhead W; Wilcken B
    J Inherit Metab Dis; 2006; 29(2-3):383-9. PubMed ID: 16763906
    [TBL] [Abstract][Full Text] [Related]  

  • 13. UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.
    Janzen N; Steuerwald U; Sander S; Terhardt M; Peter M; Sander J
    Clin Chim Acta; 2013 Jun; 421():41-5. PubMed ID: 23499962
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
    Minkler PE; Stoll MS; Ingalls ST; Kerner J; Hoppel CL
    Mol Genet Metab; 2015 Dec; 116(4):231-41. PubMed ID: 26458767
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
    Weiss KJ; Röschinger W; Blessing H; Lotz-Havla AS; Schiergens KA; Maier EM
    Ann Nutr Metab; 2020; 76(4):268-276. PubMed ID: 32683363
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Differences between acylcarnitine profiles in plasma and bloodspots.
    de Sain-van der Velden MG; Diekman EF; Jans JJ; van der Ham M; Prinsen BH; Visser G; Verhoeven-Duif NM
    Mol Genet Metab; 2013; 110(1-2):116-21. PubMed ID: 23639448
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
    Rossi C; Cicalini I; Rizzo C; Zucchelli M; Consalvo A; Valentinuzzi S; Semeraro D; Gasparroni G; Brindisino P; Gazzolo D; Dionisi-Vici C; De Laurenzi V; Pieragostino D
    Int J Environ Res Public Health; 2020 May; 17(10):. PubMed ID: 32443888
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.
    Monostori P; Godejohann M; Janda J; Galla Z; Rácz G; Klinke G; Szatmári I; Zsidegh P; Kohlmüller D; Kölker S; Hoffmann GF; Gramer G; Okun JG
    Clin Biochem; 2023 Jan; 111():72-80. PubMed ID: 36202155
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Determination of methylmalonic acid, 2-methylcitric acid, and total homocysteine in dried blood spots by liquid chromatography-tandem mass spectrometry: A reliable follow-up method for propionylcarnitine-related disorders in newborn screening.
    Hu Z; Yang J; Lin Y; Wang J; Hu L; Zhang C; Zhang Y; Huang X
    J Med Screen; 2021 Jun; 28(2):93-99. PubMed ID: 32615850
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.