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Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH. Herbst ZM, et al. Among authors: fuller m. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107632. doi: 10.1016/j.ymgme.2023.107632. Epub 2023 Jun 24. Mol Genet Metab. 2023. PMID: 37407323
Newborn screening for lysosomal storage disorders.
Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, Fietz MJ, Simonsen H, Fuller M, Brooks DA, Hopwood JJ. Meikle PJ, et al. Among authors: fuller m. Mol Genet Metab. 2006 Aug;88(4):307-14. doi: 10.1016/j.ymgme.2006.02.013. Epub 2006 Apr 4. Mol Genet Metab. 2006. PMID: 16600651
Evaluation of biomarkers for Sanfilippo syndrome.
Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Saville JT, et al. Among authors: fuller m. Mol Genet Metab. 2019 Sep-Oct;128(1-2):68-74. doi: 10.1016/j.ymgme.2019.05.005. Epub 2019 May 9. Mol Genet Metab. 2019. PMID: 31104888
1,049 results