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Journal Abstract Search

183 related items for PubMed ID: 37794778

  • 1. Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
    Pajares-García S, González de Aledo-Castillo JM, Flores-Jiménez JE, Collado T, Pérez J, Paredes-Fuentes AJ, Argudo-Ramírez A, López-Galera RM, Prats B, García-Villoria J.
    Clin Chem Lab Med; 2024 Feb 26; 62(3):493-505. PubMed ID: 37794778
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  • 3. Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.
    Vargas CR, Ribas GS, da Silva JM, Sitta A, Deon M, de Moura Coelho D, Wajner M.
    Arch Med Res; 2018 Apr 26; 49(3):205-212. PubMed ID: 30119976
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  • 4. 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 26; 24(2):58-61. PubMed ID: 27216769
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  • 5. 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 Jun 26; 12(9):e0184897. PubMed ID: 28915261
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  • 8. 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 26; 33(Suppl 2):S283-8. PubMed ID: 20440648
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  • 9. Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.
    Al-Dirbashi OY, Kölker S, Ng D, Fisher L, Rupar T, Lepage N, Rashed MS, Santa T, Goodman SI, Geraghty MT, Zschocke J, Christensen E, Hoffmann GF, Chakraborty P.
    J Inherit Metab Dis; 2011 Feb 26; 34(1):173-80. PubMed ID: 20978942
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  • 10. 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 Feb 26; 76(4):268-276. PubMed ID: 32683363
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  • 13. Validation of a targeted metabolomics panel for improved second-tier newborn screening.
    Mak J, Peng G, Le A, Gandotra N, Enns GM, Scharfe C, Cowan TM.
    J Inherit Metab Dis; 2023 Mar 26; 46(2):194-205. PubMed ID: 36680545
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  • 15. Metabolic Serendipities of Expanded Newborn Screening.
    Yahyaoui R, Blasco-Alonso J, Gonzalo-Marín M, Benito C, Serrano-Nieto J, González-Gallego I, Ruiz-Sala P, Pérez B, González-Lamuño D.
    Genes (Basel); 2020 Aug 29; 11(9):. PubMed ID: 32872442
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  • 17. 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 29; 52():48-55. PubMed ID: 29111448
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  • 18. Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry.
    Rizzo C, Boenzi S, Inglese R, la Marca G, Muraca M, Martinez TB, Johnson DW, Zelli E, Dionisi-Vici C.
    Clin Chim Acta; 2014 Feb 15; 429():30-3. PubMed ID: 24269713
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