TimothyCarlWoodMD

PubMed

• Diagnosing mucopolysaccharidosis IVA.
  Wood, T. C.,Harvey, K.,Beck, M.,Burin, M. G.,Chien, Y. H.,Church, H. J.,D'Almeida, V.,van Diggelen, O. P.,Fietz, M.,Giugliani, R.,Harmatz, P.,Hawley, S. M.,Hwu, W. L.,...> ;J Inherit Metab Dis. 2013 Mar
• Expert recommendations for the laboratory diagnosis of MPS VI.
  Wood, T.,Bodamer, O. A.,Burin, M. G.,D'Almeida, V.,Fietz, M.,Giugliani, R.,Hawley, S. M.,Hendriksz, C. J.,Hwu, W. L.,Ketteridge, D.,Lukacs, Z.,Mendelsohn, N. J.,Miller...> ;Mol. Genet. Metab.. 2012 Mar 13
• Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine.
  Mudd, S. H., Wagner, C., Luka, Z., Stabler, S. P., Allen, R. H., Schroer, R., Wood, T., Wang, J., Wong, L. J.> ;Mol Genet Metab. 2012 Feb
• Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry.
  Sowell, J., Norris, J., Jones, K., Schwartz, C., Wood, T.> ;Clin Chim Acta. 2011 Mar 18
• 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.> ;J Sep Sci. 2011 Mar
• Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses.
  Sowell, J., Wood, T.> ;Anal Chim Acta. 2011 Feb 7
• Quantification of total and free carnitine in human plasma by hydrophilic interaction liquid chromatography tandem mass spectrometry.
  Sowell, J., Fuqua, M., Wood, T.> ;J Chromatogr Sci. 2011
• Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.
  Pollard, L. M., Williams, N. R., Espinoza, L., Wood, T. C., Spector, E. B., Schroer, R. J., Holden, K. R.> ;J Child Neurol. 2010 Aug
• 7 citations
  X-linked creatine transporter deficiency presenting as a mitochondrial disorder.
  Samantha C. Hathaway, Michael Friez, Kimberly Limbo, Colette C. Parker, Gajja S. Salomons, Jerry Vockley, Tim Wood, Omar A. Abdul-Rahman> ;Journal of Child Neurology. 2010 May 25
• Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysacc...
  Champion, K. J., Basehore, M. J., Wood, T., Destrée, A., Vannuffel, P., Maystadt, I.> ;Mol Genet Metab. 2010 May
• Utilization of blood spot testing for metabolic-genetic disorders in Honduras: is it time for newborn screening?
  Slaughter, J. L., Espinoza, L., Molinero, I., Wood, T. C., Duron, C., Flores, A., Porter, R., Tomashitis, K., Holden, K. R.> ;J Child Neurol. 2010 Mar 01
• Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant.
  Giurgiutiu, D. V., Espinoza, L. M., Wood, T. C., DuPont, B. R., Holden, K. R.> ;J Child Neurol. 2008 Jan
• Early onset alpha-mannosidosis with slow progression in three Hispanic males.
  Lyons, M. J., Wood, T., Espinoza, L., Stensland, H. M., Holden, K. R.> ;Dev Med Child Neurol. 2007 Nov
• Expanded newborn screening identifies maternal primary carnitine deficiency.
  Schimmenti, L. A., Crombez, E. A., Schwahn, B. C., Heese, B. A., Wood, T. C., Schroer, R. J., Bentler, K., Cederbaum, S., Sarafoglou, K., McCann, M., Rinaldo, P., Mate...> ;Mol Genet Metab. 2007 Apr
• Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
  Wang, D., Wood, T., Sadilek, M., Scott, C. R., Turecek, F., Gelb, M. H.> ;Clin Chem. 2007 Jan
• X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
  Clark, A. J., Rosenberg, E. H., Almeida, L. S., Wood, T. C., Jakobs, C., Stevenson, R. E., Schwartz, C. E., Salomons, G. S.> ;Hum Genet. 2006 Jul
• Teaching the musculoskeletal examination: are patient educators as effective as rheumatology faculty?
  Humphrey-Murto, S., Smith, C.D., Touchie, C., Wood, T.C.> ;Teach Learn Med. 2004
• X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
  Cason, A. L., Ikeguchi, Y., Skinner, C., Wood, T. C., Holden, K. R., Lubs, H. A., Martinez, F., Simensen, R. J., Stevenson, R. E., Pegg, A. E., Schwartz, C. E.> ;Eur J Hum Genet. 2003 Dec
• Structured assessment of minor surgical skills (SAMSS) for clinical clerks.
  Friedlich, M., Wood, T., Regehr, G., Hurst, C., Shamji, F.> ;Acad Med. 2002 Oct
• X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
  Hahn, K. A., Salomons, G. S., Tackels-Horne, D., Wood, T. C., Taylor, H. A., Schroer, R. J., Lubs, H. A., Jakobs, C., Olson, R. L., Holden, K. R., Stevenson, R. E., Sc...> ;Am J Hum Genet. 2002 May
• Human phenol sulfotransferases SULT1A2 and SULT1A1: genetic polymorphisms, allozyme properties, and human liver genotype-phenotype correlations.
  Raftogianis, R. B., Wood, T. C., Weinshilboum, R. M.> ;Biochem Pharmacol. 1999 Aug 15
• Human hydroxysteroid sulfotransferase SULT2B1: two enzymes encoded by a single chromosome 19 gene.
  Her, C., Wood, T. C., Eichler, E. E., Mohrenweiser, H. W., Ramagli, L. S., Siciliano, M. J., Weinshilboum, R. M.> ;Genomics. 1998 Nov 1
• Human histamine N-methyltransferase pharmacogenetics: common genetic polymorphisms that alter activity.
  Preuss, C. V., Wood, T. C., Szumlanski, C. L., Raftogianis, R. B., Otterness, D. M., Girard, B., Scott, M. C., Weinshilboum, R. M.> ;Mol Pharmacol. 1998 Apr
• Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity.
  Otterness, D. M., Szumlanski, C. L., Wood, T. C., Weinshilboum, R. M.> ;J Clin Invest. 1998 Mar 1
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