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Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.
Am J Med Genet A. 2021 Jan;185(1):134-140. doi: 10.1002/ajmg.a.61930. Epub 2020 Oct 24.
Am J Med Genet A. 2021.
PMID: 33098355
Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.
Alqarajeh F, Omorodion J, Bosfield K, Shur N, Ferreira CR.
Alqarajeh F, et al. Among authors: bosfield k.
Transl Sci Rare Dis. 2020 Aug 3;5(1-2):81-86. doi: 10.3233/TRD-190035.
Transl Sci Rare Dis. 2020.
PMID: 33134088
Free PMC article.
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Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature.
Bosfield K, Diaz J, Leon E.
Bosfield K, et al.
Mol Syndromol. 2021 Jun;12(3):159-168. doi: 10.1159/000513453. Epub 2021 Mar 29.
Mol Syndromol. 2021.
PMID: 34177432
Free PMC article.
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Pseudo-hypertriglyceridemia in a 2-year-old male with global developmental delay, myopathy and adrenal hypoplasia.
Fu X, Williamson CP, Bosfield K.
Fu X, et al. Among authors: bosfield k.
J Mass Spectrom Adv Clin Lab. 2024 Feb 20;32:47-49. doi: 10.1016/j.jmsacl.2024.02.004. eCollection 2024 Apr.
J Mass Spectrom Adv Clin Lab. 2024.
PMID: 38419979
Free PMC article.
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Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum.
Bosfield K, Albert J, Cheng N, Swaringer T, Cusmano-Ozog K, Regier DS.
Bosfield K, et al.
Genet Med. 2023 Feb;25(2):100340. doi: 10.1016/j.gim.2022.11.008. Epub 2022 Dec 9.
Genet Med. 2023.
PMID: 36484781
Free article.
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