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A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature.
Clin Chim Acta. 2020 Sep;508:9-15. doi: 10.1016/j.cca.2020.05.010. Epub 2020 May 7.
Clin Chim Acta. 2020.
PMID: 32387637
Review.
Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses.
Oguni T, Tomatsu S, Tanaka M, Orii K, Fukao T, Watanabe J, Fukuda S, Notsu Y, Vu DC, Can TBN, Nagai A, Yamaguchi S, Taketani T, Gelb MH, Kobayashi H.
Oguni T, et al. Among authors: can tbn.
Int J Mol Sci. 2020 Mar 16;21(6):2025. doi: 10.3390/ijms21062025.
Int J Mol Sci. 2020.
PMID: 32188102
Free PMC article.
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Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.
Arunkumar N, Vu DC, Khan S, Kobayashi H, Ngoc Can TB, Oguni T, Watanabe J, Tanaka M, Yamaguchi S, Taketani T, Ago Y, Ohnishi H, Saikia S, Álvarez JV, Tomatsu S.
Arunkumar N, et al. Among authors: ngoc can tb.
Diagnostics (Basel). 2021 Jul 27;11(8):1347. doi: 10.3390/diagnostics11081347.
Diagnostics (Basel). 2021.
PMID: 34441282
Free PMC article.
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