Wood T - Search Results

1

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.

2

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE. Hahn KA, et al. Am J Hum Genet. 2002 May;70(5):1349-56. doi: 10.1086/340092. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898126 Free PMC article.

3

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE. Cason AL, et al. Eur J Hum Genet. 2003 Dec;11(12):937-44. doi: 10.1038/sj.ejhg.5201072. Eur J Hum Genet. 2003. PMID: 14508504

4

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS. Clark AJ, et al. Hum Genet. 2006 Jul;119(6):604-10. doi: 10.1007/s00439-006-0162-9. Epub 2006 Apr 26. Hum Genet. 2006. PMID: 16738945

5

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. Cathey SS, et al. Among authors: wood t. J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736. Epub 2009 Jul 16. J Med Genet. 2010. PMID: 19617216 Free PMC article.

6

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

7

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

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. 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

9

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

10

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

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2,255 results

Search Page

Filters