Boles RG - Search Results

1

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Wong LJ, et al. Among authors: boles rg. Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799. Hepatology. 2007. PMID: 17694548

2

Mitochondrial DNA analysis in clinical laboratory diagnostics.

Wong LJ, Boles RG. Wong LJ, et al. Among authors: boles rg. Clin Chim Acta. 2005 Apr;354(1-2):1-20. doi: 10.1016/j.cccn.2004.11.003. Epub 2005 Jan 27. Clin Chim Acta. 2005. PMID: 15748595 Review.

3

Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis.

Chen TJ, Boles RG, Wong LJ. Chen TJ, et al. Among authors: boles rg. Clin Chem. 1999 Aug;45(8 Pt 1):1162-7. Clin Chem. 1999. PMID: 10430780 Clinical Trial.

4

Combined cyclic vomiting and Kearns-Sayre syndromes.

Boles RG, Baldwin EE, Prezant TR. Boles RG, et al. Pediatr Neurol. 2007 Feb;36(2):135-6. doi: 10.1016/j.pediatrneurol.2006.09.008. Pediatr Neurol. 2007. PMID: 17275670

5

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ. Li FY, et al. Among authors: boles rg. Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311. Hum Mutat. 2010. PMID: 20574985

6

Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance.

Higashimoto T, Baldwin EE, Gold JI, Boles RG. Higashimoto T, et al. Among authors: boles rg. Arch Dis Child. 2008 May;93(5):390-7. doi: 10.1136/adc.2007.123661. Epub 2008 Jan 11. Arch Dis Child. 2008. PMID: 18192313

7

Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease.

Boles RG, Roe T, Senadheera D, Mahnovski V, Wong LJ. Boles RG, et al. Eur J Pediatr. 1998 Aug;157(8):643-7. doi: 10.1007/s004310050902. Eur J Pediatr. 1998. PMID: 9727847

8

Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease.

Rosser T, Muir J, Panigrahy A, Baldwin EE, Boles RG. Rosser T, et al. Among authors: boles rg. J Child Neurol. 2010 Aug;25(8):1013-6. doi: 10.1177/0883073809352378. Epub 2010 May 14. J Child Neurol. 2010. PMID: 20472869

9

Cyclic vomiting syndrome and mitochondrial DNA mutations.

Boles RG, Chun N, Senadheera D, Wong LJ. Boles RG, et al. Lancet. 1997 Nov 1;350(9087):1299-300. doi: 10.1016/S0140-6736(05)62477-4. Lancet. 1997. PMID: 9357417 No abstract available.

10

Mitochondrial DNA depletion, near-fatal metabolic acidosis, and liver failure in an HIV-infected child treated with combination antiretroviral therapy.

Church JA, Mitchell WG, Gonzalez-Gomez I, Christensen J, Vu TH, Dimauro S, Boles RG. Church JA, et al. Among authors: boles rg. J Pediatr. 2001 May;138(5):748-51. doi: 10.1067/mpd.2001.112653. J Pediatr. 2001. PMID: 11343055

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