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349 results

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Page 1
Consistency in the Assessment of Dried Blood Spot Specimen Size and Quality in U.K. Newborn Screening Laboratories.
Moat SJ, Bonham JR, Cavanagh C, Birch M, Griffith C, Shakespeare L, Le Masurier C, Manfredonia C, Hird B, Goddard P, Smith S, Wainwright L, Carling RS, Cundick J, Jenkinson F, Collingwood C, Flynn N, Taj N, Mirzazadeh M, Ramgoolam T, Robinson L, Headley A, Morgan T, Elliman D, Tetlow L. Moat SJ, et al. Among authors: goddard p. Int J Neonatal Screen. 2024 Sep 5;10(3):60. doi: 10.3390/ijns10030060. Int J Neonatal Screen. 2024. PMID: 39311362 Free PMC article.
Evaluation of a Common Internal Standard Material to Reduce Inter-Laboratory Variation and Ensure the Quality, Safety and Efficacy of Expanded Newborn Screening Results When Using Flow Injection Analysis Tandem Mass Spectrometry with Internal Calibration.
Carling RS, John C, Goddard P, Griffith C, Cowen S, Hopley C, Moat SJ. Carling RS, et al. Among authors: goddard p. Int J Neonatal Screen. 2020 Nov 19;6(4):92. doi: 10.3390/ijns6040092. Int J Neonatal Screen. 2020. PMID: 33228114 Free PMC article.
Improving Harmonization and Standardization of Expanded Newborn Screening Results by Optimization of the Legacy Flow Injection Analysis Tandem Mass Spectrometry Methods and Application of a Standardized Calibration Approach.
Carling RS, Whyte E, John C, Garstone R, Goddard P, Greenfield T, Hogg SL, Le Masurier C, Cowen S, Moat SJ, Hopley C. Carling RS, et al. Among authors: goddard p. Clin Chem. 2022 Jul 27;68(8):1075-1083. doi: 10.1093/clinchem/hvac070. Clin Chem. 2022. PMID: 35699503
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: goddard p. Ann Clin Biochem. 2023 May;60(3):208-211. doi: 10.1177/00045632231156035. Epub 2023 Feb 10. Ann Clin Biochem. 2023. PMID: 36762708
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
349 results