Wood TC - Search Results

1

Expanded newborn screening identifies maternal primary carnitine deficiency.

Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N. Schimmenti LA, et al. Among authors: wood tc. Mol Genet Metab. 2007 Apr;90(4):441-5. doi: 10.1016/j.ymgme.2006.10.003. Epub 2006 Nov 28. Mol Genet Metab. 2007. PMID: 17126586

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. Among authors: wood tc. J Child Neurol. 2010 Aug;25(8):954-60. doi: 10.1177/0883073809351984. Epub 2009 Dec 18. J Child Neurol. 2010. PMID: 20023066

3

Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine.

Mudd SH, Wagner C, Luka Z, Stabler SP, Allen RH, Schroer R, Wood T, Wang J, Wong LJ. Mudd SH, et al. Mol Genet Metab. 2012 Feb;105(2):228-36. doi: 10.1016/j.ymgme.2011.11.006. Epub 2011 Nov 12. Mol Genet Metab. 2012. PMID: 22137549 Free PMC article.

4

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

5

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. JIMD Rep. 2012;2:87-90. doi: 10.1007/8904_2011_52. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430858 Free PMC article.

6

The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape.

Bodamer OA, Giugliani R, Wood T. Bodamer OA, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):34-41. doi: 10.1016/j.ymgme.2014.07.013. Epub 2014 Jul 16. Mol Genet Metab. 2014. PMID: 25127543 Review.

7

A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses.

Zhang H, Wood T, Young SP, Millington DS. Zhang H, et al. Mol Genet Metab. 2015 Feb;114(2):123-8. doi: 10.1016/j.ymgme.2014.09.009. Epub 2014 Oct 5. Mol Genet Metab. 2015. PMID: 25458519

8

CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.

Oglesbee D, Cowan TM, Pasquali M, Wood TC, Weck KE, Long T, Palomaki GE. Oglesbee D, et al. Among authors: wood tc. Genet Med. 2018 Jan;20(1):83-90. doi: 10.1038/gim.2017.61. Epub 2017 Jun 29. Genet Med. 2018. PMID: 28661487 Free PMC article.

9

3-Methylglutaconic aciduria in carriers of primary carnitine deficiency.

Ziats CA, Burns WB, Tedder ML, Pollard L, Wood T, Champaigne NL. Ziats CA, et al. Eur J Med Genet. 2021 Dec;64(12):104365. doi: 10.1016/j.ejmg.2021.104365. Epub 2021 Oct 9. Eur J Med Genet. 2021. PMID: 34637945

10

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. Among authors: wood tc. 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.

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

160 results

Search Page

Filters