Fuller M - Search Results

1

Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I.

Herbst ZM, Urdaneta L, Klein T, Fuller M, Gelb MH. Herbst ZM, et al. Among authors: fuller m. Int J Neonatal Screen. 2020 Aug 26;6(3):69. doi: 10.3390/ijns6030069. eCollection 2020 Sep. Int J Neonatal Screen. 2020. PMID: 33123640 Free PMC article.

2

[No title available]

[No authors listed] [No authors listed] PMID: 33239595

3

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.

Sajeev M, Chin S, Ho G, Bennetts B, Sankaran BP, Gutierrez B, Devanapalli B, Tolun AA, Wiley V, Fletcher J, Fuller M, Balasubramaniam S. Sajeev M, et al. Among authors: fuller m. Int J Neonatal Screen. 2021 May 14;7(2):25. doi: 10.3390/ijns7020025. Int J Neonatal Screen. 2021. PMID: 34069211 Free PMC article.

4

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.

Herbst ZM, Urdaneta L, Klein T, Burton BK, Basheeruddin K, Liao HC, Fuller M, Gelb MH. Herbst ZM, et al. Among authors: fuller m. Int J Neonatal Screen. 2022 Jan 21;8(1):9. doi: 10.3390/ijns8010009. Int J Neonatal Screen. 2022. PMID: 35225932 Free PMC article.

5

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

6

Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.

Saville JT, Herbst ZM, Gelb MH, Fuller M. Saville JT, et al. Among authors: fuller m. Mol Genet Metab. 2023 Nov;140(3):107685. doi: 10.1016/j.ymgme.2023.107685. Epub 2023 Aug 14. Mol Genet Metab. 2023. PMID: 37604083 Review.

7

Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans.

Herbst ZM, Hong X, Sadilek M, Fuller M, Gelb MH. Herbst ZM, et al. Among authors: fuller m. Mol Genet Metab. 2023 Nov;140(3):107698. doi: 10.1016/j.ymgme.2023.107698. Epub 2023 Sep 7. Mol Genet Metab. 2023. PMID: 37820575 Review.

8

Glycosaminoglycan degradation fragments in mucopolysaccharidosis I.

Fuller M, Meikle PJ, Hopwood JJ. Fuller M, et al. Glycobiology. 2004 May;14(5):443-50. doi: 10.1093/glycob/cwh049. Epub 2004 Jan 12. Glycobiology. 2004. PMID: 14718373

9

Prediction of neuropathology in mucopolysaccharidosis I patients.

Fuller M, Brooks DA, Evangelista M, Hein LK, Hopwood JJ, Meikle PJ. Fuller M, et al. Mol Genet Metab. 2005 Jan;84(1):18-24. doi: 10.1016/j.ymgme.2004.09.004. Mol Genet Metab. 2005. PMID: 15639191

10

Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse.

Saville JT, McDermott BK, Fuller M. Saville JT, et al. Among authors: fuller m. Mol Genet Metab. 2018 Feb;123(2):112-117. doi: 10.1016/j.ymgme.2017.12.007. Epub 2017 Dec 13. Mol Genet Metab. 2018. PMID: 29273385

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