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Page 1
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Brain. 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010.
Brain. 2023.
PMID: 36729635
Precision newborn screening for lysosomal disorders.
Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P.
Minter Baerg MM, et al. Among authors: stoway sd.
Genet Med. 2018 Aug;20(8):847-854. doi: 10.1038/gim.2017.194. Epub 2017 Nov 9.
Genet Med. 2018.
PMID: 29120458
Free article.
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A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Wegwerth PJ, White AL, Stoway SD, Loken PR, Oglesbee D, Matern D, Tortorelli S, Raymond KM, Braverman NE, Gavrilov DK.
Wegwerth PJ, et al. Among authors: stoway sd.
J Inherit Metab Dis. 2023 Nov;46(6):1159-1169. doi: 10.1002/jimd.12682. Epub 2023 Oct 31.
J Inherit Metab Dis. 2023.
PMID: 37747296
Review.
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Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.
Hall PL, Marquardt G, McHugh DM, Currier RJ, Tang H, Stoway SD, Rinaldo P.
Hall PL, et al. Among authors: stoway sd.
Genet Med. 2014 Dec;16(12):889-95. doi: 10.1038/gim.2014.62. Epub 2014 May 29.
Genet Med. 2014.
PMID: 24875301
Free PMC article.
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A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.
Rowe AD, Stoway SD, Åhlman H, Arora V, Caggana M, Fornari A, Hagar A, Hall PL, Marquardt GC, Miller BJ, Nixon C, Norgan AP, Orsini JJ, Pettersen RD, Piazza AL, Schubauer NR, Smith AC, Tang H, Tavakoli NP, Wei S, Zetterström RH, Currier RJ, Mørkrid L, Rinaldo P.
Rowe AD, et al. Among authors: stoway sd.
Int J Neonatal Screen. 2021 Apr 23;7(2):23. doi: 10.3390/ijns7020023.
Int J Neonatal Screen. 2021.
PMID: 33922835
Free PMC article.
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