Wong LJ - Search Results

1

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.

Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. Szigeti K, et al. Among authors: wong lj. J Med Genet. 2004 Feb;41(2):125-9. doi: 10.1136/jmg.2003.013789. J Med Genet. 2004. PMID: 14757860 Free PMC article.

2

Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load.

Wong LJ, Perng CL, Hsu CH, Bai RK, Schelley S, Vladutiu GD, Vogel H, Enns GM. Wong LJ, et al. J Med Genet. 2003 Nov;40(11):e125. doi: 10.1136/jmg.40.11.e125. J Med Genet. 2003. PMID: 14627692 Free PMC article. No abstract available.

3

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.

Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ. Dhar SU, et al. Among authors: wong lj. Mol Genet Metab. 2009 Jan;96(1):38-43. doi: 10.1016/j.ymgme.2008.10.008. Epub 2008 Nov 21. Mol Genet Metab. 2009. PMID: 19027335

4

Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome.

Wong LJ, Lin YH, Suwannarat P, Hsu CH, Kwon HY, Mackowiak S. Wong LJ, et al. Clin Genet. 2005 Mar;67(3):252-7. doi: 10.1111/j.1399-0004.2004.00394.x. Clin Genet. 2005. PMID: 15691363

5

A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.

Wong LJ, Yim D, Bai RK, Kwon H, Vacek MM, Zane J, Hoppel CL, Kerr DS. Wong LJ, et al. J Med Genet. 2006 Sep;43(9):e46. doi: 10.1136/jmg.2005.040626. J Med Genet. 2006. PMID: 16950817 Free PMC article.

6

Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: is there a correlation with clinicopathological profile?

Wong LJ, Tan DJ, Bai RK, Yeh KT, Chang J. Wong LJ, et al. J Med Genet. 2004 May;41(5):e65. doi: 10.1136/jmg.2003.013532. J Med Genet. 2004. PMID: 15121793 Free PMC article. No abstract available.

7

Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.

Johnston JJ, Lichter-Konecki U, Wilson E, Cobb BR, Evans BM, Schnur RE, Wong LJ. Johnston JJ, et al. Among authors: wong lj. J Inherit Metab Dis. 2004;27(2):157-63. doi: 10.1023/B:BOLI.0000028782.39513.20. J Inherit Metab Dis. 2004. PMID: 15159646

8

A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.

Vladutiu GD, Bennett MJ, Smail D, Wong LJ, Taggart RT, Lindsley HB. Vladutiu GD, et al. Among authors: wong lj. Mol Genet Metab. 2000 Jun;70(2):134-41. doi: 10.1006/mgme.2000.3009. Mol Genet Metab. 2000. PMID: 10873395

9

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation.

Lee NC, Dimmock D, Hwu WL, Tang LY, Huang WC, Chinault AC, Wong LJ. Lee NC, et al. Among authors: wong lj. Arch Dis Child. 2009 Jan;94(1):55-8. doi: 10.1136/adc.2008.139584. Arch Dis Child. 2009. PMID: 19103789

10

Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation.

Liang MH, Wong LJ, Klein D, Shapiro B, Bowman CM, Hsu E, Wong LJ. Liang MH, et al. Among authors: wong lj. J Med Genet. 1998 Jan;35(1):84-5. doi: 10.1136/jmg.35.1.84-a. J Med Genet. 1998. PMID: 9475107 Free PMC article. No abstract available.

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