Wood T - Search Results

1

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. Among authors: wood t. 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.

2

Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.

Pollard LM, Williams NR, Espinoza L, Wood TC, Spector EB, Schroer RJ, Holden KR. Pollard LM, et al. J Child Neurol. 2010 Aug;25(8):954-60. doi: 10.1177/0883073809351984. Epub 2009 Dec 18. J Child Neurol. 2010. PMID: 20023066

3

Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).

Champion KJ, Basehore MJ, Wood T, Destrée A, Vannuffel P, Maystadt I. Champion KJ, et al. Among authors: wood t. Mol Genet Metab. 2010 May;100(1):51-6. doi: 10.1016/j.ymgme.2010.01.004. Epub 2010 Jan 15. Mol Genet Metab. 2010. PMID: 20138557

4

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. Among authors: wood t. J Sep Sci. 2011 Mar;34(6):631-9. doi: 10.1002/jssc.201000573. Epub 2011 Feb 15. J Sep Sci. 2011. PMID: 21328532

5

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

6

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

Pollard LM, Jones JR, Wood TC. Pollard LM, et al. 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

7

Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.

De Biase I, Champaigne NL, Schroer R, Pollard LM, Longo N, Wood T. De Biase I, et al. Among authors: wood t. JIMD Rep. 2012;2:87-90. doi: 10.1007/8904_2011_52. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430858 Free PMC article.

8

New observation of sialuria prompts detection of liver tumor in previously reported patient.

Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, Wood T, Friez MJ, Huizing M, Stevenson RE. Champaigne NL, et al. Among authors: wood t. Mol Genet Metab. 2016 Jun;118(2):92-9. doi: 10.1016/j.ymgme.2016.04.004. Epub 2016 Apr 16. Mol Genet Metab. 2016. PMID: 27142465 Free PMC article.

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. Among authors: wood t. 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. Among authors: wood t. Clin Chem. 2018 Dec;64(12):1772-1779. doi: 10.1373/clinchem.2018.289645. Epub 2018 Sep 10. Clin Chem. 2018. PMID: 30201803

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

2,194 results

Search Page