Ashlee R Stiles

Ashlee R Stiles

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Ashlee R Stiles

Ashlee R Stiles

Publications by authors named "Ashlee R Stiles"

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

Mol Genet Metab 2016 09 4;119(1-2):91-9. Epub 2016 Jul 4.

Division of Metabolic Disorders, CHOC Children's, Orange, CA 92868, USA; Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.07.001DOI Listing
September 2016

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

Mol Genet Metab 2015 Aug 15;115(4):161-7. Epub 2015 May 15.

Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California Irvine, Orange, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852729PMC
August 2015

New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.

JIMD Rep 2016 5;25:15-19. Epub 2015 Jul 5.

Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059180PMC
http://dx.doi.org/10.1007/8904_2015_462DOI Listing
July 2015

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

J Lipid Res 2012 Jul 19;53(7):1399-409. Epub 2012 Apr 19.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1194/jlr.D022285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371252PMC
July 2012

SRD5A3: A surprising role in glycosylation.

Cell 2010 Jul;142(2):196-8

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390-9046, USA.

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http://dx.doi.org/10.1016/j.cell.2010.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3104503PMC
July 2010

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

J Biol Chem 2009 Oct 16;284(42):28485-9. Epub 2009 Aug 16.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9046, USA.

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http://dx.doi.org/10.1074/jbc.R109.042168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2781391PMC
October 2009