Wilcken B - Search Results

1

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR. Lim SC, et al. Among authors: wilcken b. Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462369 Free PMC article.

2

Perimortem laboratory investigation of genetic metabolic disorders.

Christodoulou J, Wilcken B. Christodoulou J, et al. Among authors: wilcken b. Semin Neonatol. 2004 Aug;9(4):275-80. doi: 10.1016/j.siny.2003.10.004. Semin Neonatol. 2004. PMID: 15251144 Review.

3

The neurological syndrome of infantile cobalamin deficiency: developmental regression and involuntary movements.

Grattan-Smith PJ, Wilcken B, Procopis PG, Wise GA. Grattan-Smith PJ, et al. Among authors: wilcken b. Mov Disord. 1997 Jan;12(1):39-46. doi: 10.1002/mds.870120108. Mov Disord. 1997. PMID: 8990052

4

Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations.

Giak Sim K, Carpenter K, Hammond J, Christodoulou J, Wilcken B. Giak Sim K, et al. Among authors: wilcken b. Mol Genet Metab. 2002 Aug;76(4):327-34. doi: 10.1016/s1096-7192(02)00112-9. Mol Genet Metab. 2002. PMID: 12208138

5

First prenatal diagnosis of the carnitine transporter defect.

Christodoulou J, Teo SH, Hammond J, Sim KG, Hsu BY, Stanley CA, Watson B, Lau KC, Wilcken B. Christodoulou J, et al. Among authors: wilcken b. Am J Med Genet. 1996 Dec 2;66(1):21-4. doi: 10.1002/(SICI)1096-8628(19961202)66:1<21::AID-AJMG5>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8957505

6

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.

Carpente KH, Wilcken B, Christodoulou J, Thorburn DR. Carpente KH, et al. Among authors: wilcken b. J Inherit Metab Dis. 2000 Dec;23(8):845-6. doi: 10.1023/a:1026721021233. J Inherit Metab Dis. 2000. PMID: 11196112 No abstract available.

7

The mild form of menkes disease: a 34 year progress report on the original case.

Tchan MC, Wilcken B, Christodoulou J. Tchan MC, et al. Among authors: wilcken b. JIMD Rep. 2013;9:81-84. doi: 10.1007/8904_2012_183. Epub 2012 Oct 13. JIMD Rep. 2013. PMID: 23430551 Free PMC article.

8

Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course.

Chiong MA, Procopis P, Carpenter K, Wilcken B. Chiong MA, et al. Among authors: wilcken b. Pediatr Neurol. 2007 Oct;37(4):283-6. doi: 10.1016/j.pediatrneurol.2007.05.016. Pediatr Neurol. 2007. PMID: 17903674

9

Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders.

Sim KG, Carpenter K, Hammond J, Christodoulou J, Wilcken B. Sim KG, et al. Among authors: wilcken b. Metabolism. 2002 Mar;51(3):366-71. doi: 10.1053/meta.2002.30521. Metabolism. 2002. PMID: 11887175

10

Clinical approach to inborn errors of metabolism presenting in the newborn period.

Ellaway CJ, Wilcken B, Christodoulou J. Ellaway CJ, et al. Among authors: wilcken b. J Paediatr Child Health. 2002 Oct;38(5):511-7. doi: 10.1046/j.1440-1754.2002.00047.x. J Paediatr Child Health. 2002. PMID: 12354271 Review.

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