2. M.H. Chang, C.A. Bindloss, G.A. Grabowski, X. Qi, B. Winchester, J.J. Hopwood, P.J. Meikle, Saposins A, B, C, and D in plasma of patients with lysosomal storage disorders. Clin Chem 46 (2000) 167-174.
3. J.M. Fletcher, G. Matthijs, J. Jaeken, E. Van Schaftingen, P.V. Nelson, Carbohydrate-deficient glycoprotein syndrome: beyond the screen. J Inherit Metab Dis 23 (2000) 396-398.
4. E.L. Isaac, L.E. Karageorgos, D.A. Brooks, J.J. Hopwood, P.J. Meikle, Regulation of the lysosome-associated membrane protein in a sucrose model of lysosomal storage. Exp Cell Res 254 (2000) 204-209.
5. D.W. Johnson, Alkyldimethylaminoethyl ester iodides for improved analysis of fatty acids by electrospray ionization tandem mass spectrometry. Rapid Commun Mass Spectrom 14 (2000) 2019-2024.
6. D.W. Johnson, A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry. J Inherit Metab Dis 23 (2000) 475-486.
7. K. Umapathysivam, A.M. Whittle, E. Ranieri, C. Bindloss, E.M. Ravenscroft, O.P. van Diggelen, J.J. Hopwood, P.J. Meikle, Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem 46 (2000) 1318-1325.
8. E.J. Wiltshire, N.K. Poplawski, M.G. Harbord, R.J. Harrison, J.M. Fletcher, Ornithine carbamoyltransferase deficiency presenting with chorea in a female. J Inherit Metab Dis 23 (2000) 843-844.
9. E.J. Wiltshire, N.K. Poplawski, J.R. Harrison, J.M. Fletcher, Treatment of late-onset nonketotic hyperglycinaemia: effectiveness of imipramine and benzoate. J Inherit Metab Dis 23 (2000) 15-21.
10. T. Berg, B. King, P.J. Meikle, O. Nilssen, O.K. Tollersrud, J.J. Hopwood, Purification and characterization of recombinant human lysosomal alpha-mannosidase. Mol Genet Metab 73 (2001) 18-29.
11. R.W. Byard, R. Harrison, R. Wells, J.D. Gilbert, Glycine toxicity and unexpected intra-operative death. J Forensic Sci 46 (2001) 1244-1246.
12. D.W. Johnson, Analysis of amino acids as formamidene butyl esters by electrospray ionization tandem mass spectrometry. Rapid Commun Mass Spectrom 15 (2001) 2198-2205.
13. D.W. Johnson, H.J. ten Brink, C. Jakobs, A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry. J Lipid Res 42 (2001) 1699-1705.
14. D.W. Johnson, Analysis of alcohols, as dimethylglycine esters, by electrospray ionization tandem mass spectrometry. J Mass Spectrom 36 (2001) 277-283.
15. D.W. Johnson, H.J. ten Brink, R.C. Schuit, C. Jakobs, Rapid and quantitative analysis of unconjugated C(27) bile acids in plasma and blood samples by tandem mass spectrometry. J Lipid Res 42 (2001) 9-16.
16. J. Li, R.W. Milne, R.L. Nation, J.D. Turnidge, K. Coulthard, D.W. Johnson, A simple method for the assay of colistin in human plasma, using pre-column derivatization with 9-fluorenylmethyl chloroformate in solid-phase extraction cartridges and reversed-phase high-performance liquid chromatography. J Chromatogr B Biomed Sci Appl 761 (2001) 167-175.
17. N. Raben, N. Lu, K. Nagaraju, Y. Rivera, A. Lee, B. Yan, B. Byrne, P.J. Meikle, K. Umapathysivam, J.J. Hopwood, P.H. Plotz, Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy. Hum Mol Genet 10 (2001) 2039-2047.
18. K. Umapathysivam, J.J. Hopwood, P.J. Meikle, Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem 47 (2001) 1378-1383.
19. P.D. Whitfield, P.C. Sharp, R. Taylor, P. Meikle, Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry. J Lipid Res 42 (2001) 2092-2095.
20. P.D. Whitfield, P.C. Sharp, D.W. Johnson, P. Nelson, P.J. Meikle, Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry. Mol Genet Metab 73 (2001) 30-37.
22. B.C. Paton, P.B. Solly, P.V. Nelson, A.N. Pollard, P.C. Sharp, M.J. Fietz, Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency. Prenat Diagn 22 (2002) 38-41.
23. N.K. Poplawski, J.R. Harrison, W. Norton, E. Wiltshire, J.M. Fletcher, Urine amino and organic acids analysis in developmental delay or intellectual disability. J Paediatr Child Health 38 (2002) 475-480.
24. T. Rozaklis, S.L. Ramsay, P.D. Whitfield, E. Ranieri, J.J. Hopwood, P.J. Meikle, Determination of oligosaccharides in Pompe disease by electrospray ionization tandem mass spectrometry. Clin Chem 48 (2002) 131-139.
25. P.D. Whitfield, P. Nelson, P.C. Sharp, C.A. Bindloss, C. Dean, E.M. Ravenscroft, B.A. Fong, M.J. Fietz, J.J. Hopwood, P.J. Meikle, Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity. Mol Genet Metab 75 (2002) 46-55.
26. D.W. Johnson, M.U. Trinh, T. Oe, Measurement of plasma pristanic, phytanic and very long chain fatty acids by liquid chromatography-electrospray tandem mass spectrometry for the diagnosis of peroxisomal disorders. J Chromatogr B Analyt Technol Biomed Life Sci 798 (2003) 159-162.
27. D.W. Johnson, M.U. Trinh, Analysis of isomeric long-chain hydroxy fatty acids by tandem mass spectrometry: application to the diagnosis of long-chain 3-hydroxyacyl CoA dehydrogenase deficiency. Rapid Commun Mass Spectrom 17 (2003) 171-175.
29. P.J. Meikle, M. Fuller, J.J. Hopwood, Mass spectrometry in the study of lysosomal storage disorders. Cell Mol Biol 49 (2003) 769-777.
30. K. Nelson, E.L. Melville, P.J. Meikle, D.S. Anson, Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen. Cell Biol Int 27 (2003) 567-570.
31. S.L. Ramsay, P.J. Meikle, J.J. Hopwood, Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry. Mol Genet Metab 78 (2003) 193-204.
32. M.U. Trinh, J. Blake, J.R. Harrison, R. Gerace, E. Ranieri, J.M. Fletcher, D.W. Johnson, Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency. Clin Chem 49 (2003) 681-684.
33. M.H. Chang, C.T. Hua, E.L. Isaac, T. Litjens, G. Hodge, L.E. Karageorgos, P.J. Meikle, Transthyretin interacts with the lysosome-associated membrane protein (LAMP-1) in circulation. Biochem J 382 (2004) 481-489.
34. A. Crawley, S.L. Ramsay, S. Byers, J. Hopwood, P.J. Meikle, Monitoring dose response of enzyme replacement therapy in feline mucopolysaccharidosis type VI by tandem mass spectrometry. Pediatr Res 55 (2004) 585-591.
35. M. Fuller, M. Lovejoy, D.A. Brooks, M.L. Harkin, J.J. Hopwood, P.J. Meikle, Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease. Clin Chem 50 (2004) 1979-1985.
36. M. Fuller, T. Rozaklis, S.L. Ramsay, J.J. Hopwood, P.J. Meikle, Disease-specific markers for the mucopolysaccharidoses. Pediatr Res 56 (2004) 733-738.
37. M. Fuller, P.J. Meikle, J.J. Hopwood, Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. Glycobiology 14 (2004) 443-450.
38. D.W. Johnson, M.U. Trinh, Stability of malonylcarnitine and glutarylcarnitine in stored blood spots. J Inherit Metab Dis 27 (2004) 789-790.
40. P.J. Meikle, E. Ranieri, H. Simonsen, T. Rozaklis, S.L. Ramsay, P.D. Whitfield, M. Fuller, E. Christensen, F. Skovby, J.J. Hopwood, Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 114 (2004) 909-916.
41. P.J. Meikle, M.J. Fietz, J.J. Hopwood, Diagnosis of lysosomal storage disorders: current techniques and future directions. Expert Rev Mol Diagn 4 (2004) 677-691.
42. S.L. Ramsay, I. Maire, C. Bindloss, M. Fuller, P.D. Whitfield, M. Piraud, J.J. Hopwood, P.J. Meikle, Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. Mol Genet Metab 83 (2004) 231-238.
43. M. Fuller, P.C. Sharp, T. Rozaklis, P.D. Whitfield, D. Blacklock, J.J. Hopwood, P.J. Meikle, Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes. Clin Chem 3 (2005) 3.
44. M. Fuller, D.A. Brooks, M. Evangelista, L.K. Hein, J.J. Hopwood, P.J. Meikle, Prediction of neuropathology in mucopolysaccharidosis I patients. Mol Genet Metab 84 (2005) 18-24.
45. L.K. Hein, P.J. Meikle, C.J. Dean, M.R. Bockmann, D. Auclair, J.J. Hopwood, D.A. Brooks, Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots. Clin Chim Acta 353 (2005) 67-74.
46. D.W. Johnson, Ketosteroid profiling using Girard T derivatives and electrospray ionization tandem mass spectrometry: direct plasma analysis of androstenedione, 17-hydroxyprogesterone and cortisol. Rapid Commun Mass Spectrom 19 (2005) 193-200.
47. N. Raben, T. Fukuda, A.L. Gilbert, D. de Jong, B.L. Thurberg, R.J. Mattaliano, P. Meikle, J.J. Hopwood, K. Nagashima, K. Nagaraju, P.H. Plotz, Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 11 (2005) 48-56.
48. P.D. Whitfield, J. Calvin, S. Hogg, E. O'Driscoll, D. Halsall, K. Burling, G. Maguire, N. Wright, T.M. Cox, P.J. Meikle, P.B. Deegan, Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide. J Inherit Metab Dis 28 (2005) 21-33.
49. E.J. Wraith, J.J. Hopwood, M. Fuller, P.J. Meikle, D.A. Brooks, Laronidase treatment of mucopolysaccharidosis I. BioDrugs 19 (2005) 1-7.
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