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Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
Carling RS, Hedgethorne K, Chakrapani A, Hall PL, Flynn N, Greenfield T, Moat SJ, Ssali J, Shakespeare L, Taj N, Wu THY, Anderson M, Ghosh A, Lemonde H, Pierre G, Sharrard M, Sreekantam S, Bonham JR. Carling RS, et al. Int J Neonatal Screen. 2024 Mar 13;10(1):24. doi: 10.3390/ijns10010024. Int J Neonatal Screen. 2024. PMID: 38535128 Free PMC article.
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
Oliva C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado M, Ormazabal A, Artuch R. Oliva C, et al. Clin Chem Lab Med. 2024 Mar 11;62(10):1991-2000. doi: 10.1515/cclm-2023-1291. Print 2024 Sep 25. Clin Chem Lab Med. 2024. PMID: 38456798
Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria.
Hogg SL, Carling RS, Cantley NW, Hamilton G, Goddard P, Aitkenhead H, Barski R, Collingwood C, Moat SJ, Kemp HJ. Hogg SL, et al. Among authors: carling rs. Ann Clin Biochem. 2023 May;60(3):208-211. doi: 10.1177/00045632231156035. Epub 2023 Feb 10. Ann Clin Biochem. 2023. PMID: 36762708
29 results