Fuller M - Search Results

1

Prevalence of lysosomal storage disorders in Australia from 2009 to 2020.

Chin SJ, Fuller M. Chin SJ, et al. Among authors: fuller m. Lancet Reg Health West Pac. 2021 Dec 12;19:100344. doi: 10.1016/j.lanwpc.2021.100344. eCollection 2022 Feb. Lancet Reg Health West Pac. 2021. PMID: 35024668 Free PMC article.

2

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

3

Immunochemistry of lysosomal storage disorders.

Parkinson-Lawrence E, Fuller M, Hopwood JJ, Meikle PJ, Brooks DA. Parkinson-Lawrence E, et al. Among authors: fuller m. Clin Chem. 2006 Sep;52(9):1660-8. doi: 10.1373/clinchem.2005.064915. Epub 2006 Jul 13. Clin Chem. 2006. PMID: 16840586 Review.

4

Expanding the clinical utility of glucosylsphingosine for Gaucher disease.

Saville JT, McDermott BK, Chin SJ, Fletcher JM, Fuller M. Saville JT, et al. Among authors: fuller m. J Inherit Metab Dis. 2020 May;43(3):558-563. doi: 10.1002/jimd.12192. Epub 2019 Nov 26. J Inherit Metab Dis. 2020. PMID: 31707742

5

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA.

Chin SJ, Saville JT, McDermott BK, Zankl A, Fletcher JM, Fuller M. Chin SJ, et al. Among authors: fuller m. JIMD Rep. 2020 Jun 30;55(1):68-74. doi: 10.1002/jmd2.12132. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905071 Free PMC article.

6

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.

7

Mass spectrometry in the study of lysosomal storage disorders.

Meikle PJ, Fuller M, Hopwood JJ. Meikle PJ, et al. Among authors: fuller m. Cell Mol Biol (Noisy-le-grand). 2003 Jul;49(5):769-77. Cell Mol Biol (Noisy-le-grand). 2003. PMID: 14528914 Review.

8

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy.

Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, Fuller M, Christensen E, Skovby F, Hopwood JJ. Meikle PJ, et al. Among authors: fuller m. Pediatrics. 2004 Oct;114(4):909-16. doi: 10.1542/peds.2004-0583. Pediatrics. 2004. PMID: 15466084

9

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.

Ramsay SL, Maire I, Bindloss C, Fuller M, Whitfield PD, Piraud M, Hopwood JJ, Meikle PJ. Ramsay SL, et al. Among authors: fuller m. Mol Genet Metab. 2004 Nov;83(3):231-8. doi: 10.1016/j.ymgme.2004.07.015. Mol Genet Metab. 2004. PMID: 15542394

10

Effect of lysosomal storage on bis(monoacylglycero)phosphate.

Meikle PJ, Duplock S, Blacklock D, Whitfield PD, Macintosh G, Hopwood JJ, Fuller M. Meikle PJ, et al. Among authors: fuller m. Biochem J. 2008 Apr 1;411(1):71-8. doi: 10.1042/BJ20071043. Biochem J. 2008. PMID: 18052935

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