Wood TC - Search Results

1

Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT).

Sohn YB, Wang R, Ashworth J, Broqua P, Tallandier M, Abitbol JL, Jozwiak E, Pollard L, Wood TC, Aslam T, Harmatz PR. Sohn YB, et al. Among authors: wood tc. Mol Genet Metab Rep. 2023 Dec 28;38:101041. doi: 10.1016/j.ymgmr.2023.101041. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38234862 Free PMC article.

2

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.

Sohn YB, Rogers C, Stallworth J, Cooley Coleman JA, Buch L, Jozwiak E, Johnson JA, Wood T, Harmatz P, Pollard L, Louie RJ. Sohn YB, et al. Mol Genet Metab Rep. 2022 May 3;31:100875. doi: 10.1016/j.ymgmr.2022.100875. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782621 Free PMC article.

3

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S. Hendriksz CJ, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):54-64. doi: 10.1016/j.ymgme.2013.04.002. Epub 2013 Apr 10. Mol Genet Metab. 2013. PMID: 23665161 Free PMC article. Review.

4

Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome.

DeLong K, Feigenbaum A, Pollard L, Lay A, Wood T. DeLong K, et al. Mol Genet Metab Rep. 2022 Oct 7;33:100920. doi: 10.1016/j.ymgmr.2022.100920. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36245961 Free PMC article.

5

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.

Hong X, Pollard L, He M, Gelb MH, Wood TC. Hong X, et al. Among authors: wood tc. Mol Genet Metab Rep. 2023 May 16;35:100978. doi: 10.1016/j.ymgmr.2023.100978. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 37275682 Free PMC article.

6

Expert recommendations for the laboratory diagnosis of MPS VI.

Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P. Wood T, et al. Mol Genet Metab. 2012 May;106(1):73-82. doi: 10.1016/j.ymgme.2012.02.005. Epub 2012 Feb 10. Mol Genet Metab. 2012. PMID: 22405600

7

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

Pollard LM, Jones JR, Wood TC. Pollard LM, et al. Among authors: wood tc. J Inherit Metab Dis. 2013 Mar;36(2):179-87. doi: 10.1007/s10545-012-9533-7. Epub 2012 Sep 14. J Inherit Metab Dis. 2013. PMID: 22976768

8

Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease.

Sowell J, Pollard L, Wood T. Sowell J, et al. J Sep Sci. 2011 Mar;34(6):631-9. doi: 10.1002/jssc.201000573. Epub 2011 Feb 15. J Sep Sci. 2011. PMID: 21328532

9

Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.

Ellsworth KA, Pollard LM, Cathey S, Wood T. Ellsworth KA, et al. JIMD Rep. 2017;34:11-18. doi: 10.1007/8904_2016_1. Epub 2016 Jul 28. JIMD Rep. 2017. PMID: 27469132 Free PMC article.

10

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.

Huang R, Cathey S, Pollard L, Wood T. Huang R, et al. Clin Chem. 2018 Dec;64(12):1772-1779. doi: 10.1373/clinchem.2018.289645. Epub 2018 Sep 10. Clin Chem. 2018. PMID: 30201803

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