Wong LJ - Search Results

1

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ. Wang GL, et al. Among authors: wong lj. Mol Genet Metab. 2011 Aug;103(4):349-57. doi: 10.1016/j.ymgme.2011.05.001. Epub 2011 May 7. Mol Genet Metab. 2011. PMID: 21605995

2

Molecular characterization of CPS1 deletions by array CGH.

Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ. Wang J, et al. Among authors: wong lj. Mol Genet Metab. 2011 Jan;102(1):103-6. doi: 10.1016/j.ymgme.2010.08.020. Epub 2010 Sep 19. Mol Genet Metab. 2011. PMID: 20855223 Free PMC article.

3

Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders.

Landsverk ML, Wang J, Schmitt ES, Pursley AN, Wong LJ. Landsverk ML, et al. Among authors: wong lj. Mol Genet Metab. 2011 Jun;103(2):148-52. doi: 10.1016/j.ymgme.2011.03.003. Epub 2011 Mar 10. Mol Genet Metab. 2011. PMID: 21482165

4

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. Tang S, et al. Among authors: wong lj. J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31. J Med Genet. 2011. PMID: 21880868

5

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ. El-Hattab AW, et al. Among authors: wong lj. Mol Genet Metab. 2010 Mar;99(3):300-8. doi: 10.1016/j.ymgme.2009.10.003. Epub 2009 Oct 13. Mol Genet Metab. 2010. PMID: 20074988

6

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ. Dimmock D, et al. Among authors: wong lj. Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549. Epub 2010 May 6. Clin Chem. 2010. PMID: 20448188

7

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.

Coughlin CR 2nd, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J. Coughlin CR 2nd, et al. Among authors: wong lj. Mol Genet Metab. 2010 Jul;100(3):296-9. doi: 10.1016/j.ymgme.2010.04.004. Epub 2010 Apr 14. Mol Genet Metab. 2010. PMID: 20462777

8

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LJ. Sadikovic B, et al. Among authors: wong lj. PLoS One. 2010 Dec 20;5(12):e15687. doi: 10.1371/journal.pone.0015687. PLoS One. 2010. PMID: 21187929 Free PMC article.

9

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F. Hanchard NA, et al. Among authors: wong lj. Mol Genet Metab. 2011 Jul;103(3):262-7. doi: 10.1016/j.ymgme.2011.03.006. Epub 2011 Mar 11. Mol Genet Metab. 2011. PMID: 21478040

10

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ. Douglas GV, et al. Among authors: wong lj. J Hum Genet. 2011 Dec;56(12):834-9. doi: 10.1038/jhg.2011.112. Epub 2011 Oct 20. J Hum Genet. 2011. PMID: 22011815 Free PMC article.

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