Stiles AR - Search Results

1

CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions.

Stiles AR, McDonald JG, Bauman DR, Russell DW. Stiles AR, et al. J Biol Chem. 2009 Oct 16;284(42):28485-9. doi: 10.1074/jbc.R109.042168. Epub 2009 Aug 16. J Biol Chem. 2009. PMID: 19687010 Free PMC article. Review.

2

SRD5A3: A surprising role in glycosylation.

Stiles AR, Russell DW. Stiles AR, et al. Cell. 2010 Jul 23;142(2):196-8. doi: 10.1016/j.cell.2010.07.003. Cell. 2010. PMID: 20655462 Free PMC article.

3

A comprehensive method for extraction and quantitative analysis of sterols and secosteroids from human plasma.

McDonald JG, Smith DD, Stiles AR, Russell DW. McDonald JG, et al. Among authors: stiles ar. J Lipid Res. 2012 Jul;53(7):1399-409. doi: 10.1194/jlr.D022285. Epub 2012 Apr 19. J Lipid Res. 2012. PMID: 22517925 Free PMC article.

4

Genetic, anatomic, and clinical determinants of human serum sterol and vitamin D levels.

Stiles AR, Kozlitina J, Thompson BM, McDonald JG, King KS, Russell DW. Stiles AR, et al. Proc Natl Acad Sci U S A. 2014 Sep 23;111(38):E4006-14. doi: 10.1073/pnas.1413561111. Epub 2014 Sep 8. Proc Natl Acad Sci U S A. 2014. PMID: 25201972 Free PMC article. Clinical Trial.

5

Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS.

Beasley J, McCaw P, Zhang H, Young SP, Stiles AR. Beasley J, et al. Among authors: stiles ar. Clin Chim Acta. 2020 Dec;511:132-137. doi: 10.1016/j.cca.2020.10.007. Epub 2020 Oct 12. Clin Chim Acta. 2020. PMID: 33058838

6

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.

Stiles AR, Zhang H, Dai J, McCaw P, Beasley J, Rehder C, Koeberl DD, McDonald M, Bali DS, Young SP. Stiles AR, et al. Mol Genet Metab. 2020 Jul;130(3):209-214. doi: 10.1016/j.ymgme.2020.04.006. Epub 2020 May 3. Mol Genet Metab. 2020. PMID: 32418857

7

Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy.

Zhang H, Dickson PI, Stiles AR, Chen AH, Le SQ, McCaw P, Beasley J, Millington DS, Young SP. Zhang H, et al. Among authors: stiles ar. Clin Chim Acta. 2020 Sep;508:179-184. doi: 10.1016/j.cca.2020.05.035. Epub 2020 May 20. Clin Chim Acta. 2020. PMID: 32442432

8

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.

Stiles AR, Huggins E, Fierro L, Jung SH, Balwani M, Kishnani PS. Stiles AR, et al. Mol Genet Metab Rep. 2021 Feb 8;27:100729. doi: 10.1016/j.ymgmr.2021.100729. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33614410 Free PMC article.

9

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.

Stiles AR, Ferdinandusse S, Besse A, Appadurai V, Leydiker KB, Cambray-Forker EJ, Bonnen PE, Abdenur JE. Stiles AR, et al. Mol Genet Metab. 2015 Aug;115(4):161-7. doi: 10.1016/j.ymgme.2015.05.008. Epub 2015 May 15. Mol Genet Metab. 2015. PMID: 26026795 Free PMC article.

10

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE. Stiles AR, et al. Mol Genet Metab. 2016 Sep;119(1-2):91-9. doi: 10.1016/j.ymgme.2016.07.001. Epub 2016 Jul 4. Mol Genet Metab. 2016. PMID: 27448789

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