Robert D Steiner

Robert D Steiner

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Robert D Steiner

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Genetics in Medicine at Twenty.

Authors:
Robert D Steiner

Genet Med 2019 01 14;21(1):38-40. Epub 2018 Nov 14.

University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, 53706, USA.

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http://dx.doi.org/10.1038/s41436-018-0354-4DOI Listing
January 2019

Identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in human cerebrospinal fluid and plasma.

Biochimie 2018 Oct 28;153:86-98. Epub 2018 Jun 28.

Institute of Life Science, Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, UK. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2018.06.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6171785PMC
October 2018

Intravenous Fish Oil and Pediatric Intestinal Failure-Associated Liver Disease: Changes in Plasma Phytosterols, Cytokines, and Bile Acids and Erythrocyte Fatty Acids.

JPEN J Parenter Enteral Nutr 2018 03 18;42(3):633-641. Epub 2017 Dec 18.

Department of Pediatrics, Division of Gastroenterology, David Geffen School of Medicine, University of California, Los Angeles, and Mattel Children's Hospital at UCLA, Los Angeles, California, USA.

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http://dx.doi.org/10.1177/0148607117709196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665720PMC
March 2018

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).

J Inherit Metab Dis 2017 11 4;40(6):771-781. Epub 2017 Oct 4.

Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

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http://dx.doi.org/10.1007/s10545-017-0093-8DOI Listing
November 2017

Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe.

J Pediatr 2017 09 16;188:198-204.e1. Epub 2017 Jun 16.

Human Nutritional Sciences, University of Manitoba, Winnipeg, Manitoba, Canada; Richardson Center for Functional Foods and Nutraceuticals, University of Manitoba, Winnipeg, Manitoba, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2017.05.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5572543PMC
September 2017

Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia.

Atherosclerosis 2017 05 10;260:27-33. Epub 2017 Mar 10.

Human Nutritional Sciences, University of Manitoba, Winnipeg, Manitoba, Canada; Richardson Center for Functional Foods and Nutraceuticals, University of Manitoba, Winnipeg, Manitoba, Canada.

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http://dx.doi.org/10.1016/j.atherosclerosis.2017.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5419426PMC
May 2017

Challenges to breastfeeding infants with phenylketonuria.

J Pediatr Nurs 2015 Jan-Feb;30(1):219-26. Epub 2014 May 17.

School of Nursing, University of Washington, Seattle, WA.

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https://linkinghub.elsevier.com/retrieve/pii/S08825963140013
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http://dx.doi.org/10.1016/j.pedn.2014.05.003DOI Listing
November 2016

Bisphosphonate therapy for osteogenesis imperfecta.

Cochrane Database Syst Rev 2016 Oct 19;10:CD005088. Epub 2016 Oct 19.

Cochrane Central Executive, St Albans House, 57-59 Haymarket, London, England, UK, SW1Y 4QX.

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http://dx.doi.org/10.1002/14651858.CD005088.pub4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611487PMC
October 2016

Commitment to Breastfeeding in the Context of Phenylketonuria.

J Obstet Gynecol Neonatal Nurs 2015 Nov-Dec;44(6):726-36. Epub 2015 Sep 24.

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http://dx.doi.org/10.1111/1552-6909.12750DOI Listing
September 2016

Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.

Clin Med Res 2016 Jun 26;14(2):103-8. Epub 2016 May 26.

Department of Pediatrics and Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA Marshfield Clinic Research Foundation, Marshfield, USA.

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http://dx.doi.org/10.3121/cmr.2016.1294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321287PMC
June 2016

A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome.

J Dev Behav Pediatr 2016 06;37(5):424-30

*Division of Psychology, Institute on Development and Disability, Oregon Health & Science University, Portland, OR; †Department of Pediatrics, Oregon Health & Science University, Portland, OR; ‡Child Study Center, Yale School of Medicine, New Haven, CT; §Experimental and Systems Pharmacology, Washington State University, Spokane, WA; ‖University of Wisconsin School of Medicine and Public Health, Madison, WI.

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http://dx.doi.org/10.1097/DBP.0000000000000317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4890614PMC
June 2016

Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.

Mol Genet Metab Rep 2016 Jun 12;7:11-5. Epub 2016 Mar 12.

BioAnalytical Shared Resource Facility, Department of Physiology & Pharmacology, Oregon Health & Science University (OHSU), Portland, OR, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269163000
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http://dx.doi.org/10.1016/j.ymgmr.2016.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908045PMC
June 2016

Inborn Errors of Metabolism (Metabolic Disorders).

Pediatr Rev 2016 Jan;37(1):3-15; quiz 16-7, 47

Department of Pediatrics and the Waisman Center, University of Wisconsin School of Medicine and Public Health, Madison, WI. Marshfield Clinic Research Foundation, Marshfield, WI.

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http://pedsinreview.aappublications.org/content/pedsinreview
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http://pedsinreview.aappublications.org/cgi/doi/10.1542/pir.
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http://dx.doi.org/10.1542/pir.2014-0122DOI Listing
January 2016

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.

Mol Genet Metab 2015 Dec 26;116(4):298-304. Epub 2015 Oct 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4767010PMC
December 2015

Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.

Hum Genet 2015 Jun 19;134(6):659-69. Epub 2015 Apr 19.

Center for Human Genetics, Marshfield Clinic Research Foundation, 1000 N Oak Ave-MLR, Marshfield, WI, 54449, USA,

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http://dx.doi.org/10.1007/s00439-015-1551-8DOI Listing
June 2015

Genetics of familial hypercholesterolemia.

Curr Atheroscler Rep 2015 Apr;17(4):491

Division of Genetics, Cook Children's Medical Center, Fort Worth, TX, USA,

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http://dx.doi.org/10.1007/s11883-015-0491-zDOI Listing
April 2015

Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia.

J Pediatr 2015 Jan 16;166(1):125-31. Epub 2014 Oct 16.

Human Nutritional Sciences, University of Manitoba, Winnipeg, Manitoba, Canada; Richardson Center for Functional Foods and Nutraceuticals, University of Manitoba, Winnipeg, Manitoba, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2014.08.069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274192PMC
January 2015

Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.

J Pediatr 2014 Oct 16;165(4):836-41.e1. Epub 2014 Jul 16.

Institute on Development and Disability, Oregon Health & Science University, Portland, OR; Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, OR; Department of Molecular and Medical Genetics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, OR.

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http://dx.doi.org/10.1016/j.jpeds.2014.06.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177270PMC
October 2014

Shared familial transmission of autism spectrum and attention-deficit/hyperactivity disorders.

J Child Psychol Psychiatry 2014 Jul 21;55(7):819-27. Epub 2014 Jan 21.

Oregon Health & Science University, Sam Jackson Park Road, Portland, OR, USA; University of Oregon, Eugene, OR, USA.

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http://dx.doi.org/10.1111/jcpp.12201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211282PMC
July 2014

Bisphosphonate therapy for osteogenesis imperfecta.

Cochrane Database Syst Rev 2014 Jul 23(7):CD005088. Epub 2014 Jul 23.

Department of Biostatistics, University of Liverpool, Alder Hey Children's NHS Foundation Trust, Eaton Road, Liverpool, England, UK, L12 2AP.

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http://dx.doi.org/10.1002/14651858.CD005088.pub3DOI Listing
July 2014

A useful multi-analyte blood test for cerebrotendinous xanthomatosis.

Clin Biochem 2014 Jun 21;47(9):860-3. Epub 2014 Apr 21.

Department of Pediatrics, OHSU, USA; Department of Molecular & Medical Genetics, Child Development & Rehabilitation Center, Doernbecher Children's Hospital, OHSU, USA; Marshfield Research Clinic Foundation, Marshfield, WI 54449, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00099120140018
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http://dx.doi.org/10.1016/j.clinbiochem.2014.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4175980PMC
June 2014

Breastfeeding infants with phenylketonuria in the United States and Canada.

Breastfeed Med 2014 Apr 18;9(3):142-8. Epub 2013 Dec 18.

1 University of Washington , Seattle, Washington.

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http://dx.doi.org/10.1089/bfm.2013.0092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3993072PMC
April 2014

Apolipoprotein E-low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner.

Neurobiol Dis 2014 Apr 9;64:150-62. Epub 2014 Jan 9.

Department of Behavioral Neuroscience, Oregon Health & Science University, Portland, OR, USA; Departments of Neurology and Radiation Medicine, Oregon Health & Science University, Portland, OR, USA; Division of Neuroscience, ONPRC, Oregon Health & Science University, Beaverton, OR, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2013.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936477PMC
April 2014

Sterol metabolism disorders and neurodevelopment-an update.

Dev Disabil Res Rev 2013 ;17(3):197-210

Department of Pediatrics, University of Pittsburgh Medical Center, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ddrr.1114DOI Listing
March 2014

PHENOTYPIC VARIABILITY IN INDIVIDUALS WITH TYPE V OSTEOGENESIS IMPERFECTA WITH IDENTICAL IFITM5 MUTATIONS.

J Rare Disord 2013 Dec;1(2):37-42

Department of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560441PMC
December 2013

Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy.

Dev Neuropsychol 2013 ;38(3):139-52

Department of Psychology, Washington University, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1080/87565641.2012.718816DOI Listing
September 2013

Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis.

J Neurosurg Pediatr 2013 Jun 12;11(6):643-52. Epub 2013 Apr 12.

Department of Neurological Surgery, Oregon Health & Science University, 3303 SW Bond Avenue, Portland, OR 97239, USA.

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http://dx.doi.org/10.3171/2013.3.PEDS12397DOI Listing
June 2013

Skeletal abnormalities in lysosomal storage diseases.

Pediatr Endocrinol Rev 2013 Jun;10 Suppl 2:406-16

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA.

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June 2013

Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences.

Cogn Behav Neurol 2013 Mar;26(1):23-9

Division of Psychology, Institute on Development & Disability, Institute on Development & Disability, Oregon Health & Science University, Portland 97239, USA.

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http://dx.doi.org/10.1097/WNN.0b013e31828bf6d5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3684260PMC
March 2013

Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients.

J Lipid Res 2013 Jan 16;54(1):244-53. Epub 2012 Oct 16.

Department of Chemistry, Vanderbilt Institute of Chemical Biology and Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37235, USA.

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http://dx.doi.org/10.1194/jlr.M031732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520531PMC
January 2013

Processing speed and executive abilities in children with phenylketonuria.

Neuropsychology 2012 Nov 6;26(6):735-43. Epub 2012 Aug 6.

Department of Psychology, Campus Box 1125, Washington University, St. Louis, MO 63130, USA.

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http://doi.apa.org/getdoi.cfm?doi=10.1037/a0029419
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http://dx.doi.org/10.1037/a0029419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526340PMC
November 2012

Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.

Am J Med Genet C Semin Med Genet 2012 Nov 5;160C(4):285-94. Epub 2012 Oct 5.

Oregon Health&Science University (OHSU), Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1002/ajmg.c.31347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890258PMC
November 2012

No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.

J Inherit Metab Dis 2012 Sep 6;35(5):859-69. Epub 2012 Mar 6.

Department of Pediatrics, Oregon Health & Science University, 707 S.W. Gaines St., Portland, OR 97239-2998, USA.

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http://link.springer.com/10.1007/s10545-012-9453-6
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http://dx.doi.org/10.1007/s10545-012-9453-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404269PMC
September 2012

Perinatal onset mevalonate kinase deficiency.

Pediatr Dev Pathol 2011 Jul-Aug;14(4):301-6. Epub 2011 Mar 22.

Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.2350/11-02-0985-OA.1DOI Listing
December 2011

Smith-Lemli-Opitz syndrome.

Expert Rev Mol Med 2011 Jul 22;13:e24. Epub 2011 Jul 22.

Department of Physiology and Pharmacology, Oregon Health & Science University, Portland, OR, USA.

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http://www.journals.cambridge.org/abstract_S146239941100189X
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http://dx.doi.org/10.1017/S146239941100189XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366105PMC
July 2011

Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis.

J Chromatogr B Analyt Technol Biomed Life Sci 2011 May 23;879(17-18):1384-92. Epub 2010 Nov 23.

Department of Physiology and Pharmacology, Oregon Health & Science University, Portland, OR 97239, United States.

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http://dx.doi.org/10.1016/j.jchromb.2010.11.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326078PMC
May 2011

In Memoriam: William E. Connor (1921-2009).

J Lipid Res 2010 Apr;51(4):679-81

Division of Endocrinology, Metabolism and Clinical Nutrition, Medical College of Wisconsin, and Clement J. Zablocki Veterans Medical Center, Milwaukee, WI 53226, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842148PMC
http://dx.doi.org/10.1194/jlr.e005900DOI Listing
April 2010

The effects of sterol structure upon sterol esterification.

Atherosclerosis 2010 Jan 23;208(1):155-60. Epub 2009 Jul 23.

Division of Endocrinology, Diabetes and Clinical Nutrition, Department of Medicine, Oregon Health & Science University, Portland, Oregon, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002191500900595
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http://dx.doi.org/10.1016/j.atherosclerosis.2009.07.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098764PMC
January 2010

ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis.

Clin Chim Acta 2010 Jan 3;411(1-2):43-8. Epub 2009 Oct 3.

Department of Physiology and Pharmacology, Oregon Health & Science University, Portland, OR 97239, USA.

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http://dx.doi.org/10.1016/j.cca.2009.09.036DOI Listing
January 2010

Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.

Genet Med 2009 Jun;11(6):375-85

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon 97239, USA.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e3181a1ff7b
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http://dx.doi.org/10.1097/GIM.0b013e3181a1ff7bDOI Listing
June 2009

Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome.

J Pediatr 2009 Apr 21;154(4):557-561.e1. Epub 2008 Dec 21.

Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239-2998, USA.

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http://dx.doi.org/10.1016/j.jpeds.2008.10.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092779PMC
April 2009

Response monitoring in children with phenylketonuria.

Neuropsychology 2009 Jan;23(1):130-4

Department of Psychology, Washington University, St.Louis, MO 63130, USA.

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http://dx.doi.org/10.1037/a0013488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076958PMC
January 2009

Bisphosphonate therapy for osteogenesis imperfecta.

Cochrane Database Syst Rev 2008 Oct 8(4):CD005088. Epub 2008 Oct 8.

Pediatrics Department, Oregon Health & Science University, 707 SW Gaines Street, Portland, Oregon 97239-2901, USA.

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http://dx.doi.org/10.1002/14651858.CD005088.pub2DOI Listing
October 2008

Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome.

Mol Genet Metab 2008 Jun 17;94(2):240-7. Epub 2008 Mar 17.

Department of Pathology, Genome Research Institute, University of Cincinnati Medical School, 2180 E. Galbraith Road, Cincinnati, OH 45237-0507, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3037116PMC
June 2008

Cellular therapy for childhood neurodegenerative disease. Part I: rationale and preclinical studies.

Neurosurg Focus 2008 ;24(3-4):E22

Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.3171/FOC/2008/24/3-4/E21DOI Listing
April 2008

Cellular therapy for childhood neurodegenerative disease. Part II: clinical trial design and implementation.

Neurosurg Focus 2008 ;24(3-4):E23

Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon 97239, USA.

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http://thejns.org/doi/10.3171/FOC/2008/24/3-4/E22
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http://dx.doi.org/10.3171/FOC/2008/24/3-4/E22DOI Listing
April 2008

Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force.

Pediatrics 2007 Jul;120(1):e189-214

Oregon Evidence-based Practice Center, Department of Medical Informatics and Clinical Epidemiology, Portland, OR, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2006-1801DOI Listing
July 2007

Inhibitory control in children with phenylketonuria.

Dev Neuropsychol 2006 ;30(3):845-64

Department of Psychological Sciences, University of Missouri-Columbia, Department of Psychology, Washington University, St. Louis, MO 65211, USA.

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http://web.missouri.edu/~christse/pubs/PKUinpress.pdf
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http://www.tandfonline.com/doi/abs/10.1207/s15326942dn3003_5
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http://dx.doi.org/10.1207/s15326942dn3003_5DOI Listing
February 2007

Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.

J Lipid Res 2006 Dec 18;47(12):2789-98. Epub 2006 Sep 18.

Division of Endocrinology, Diabetes, and Clinical Nutrition, Department of Medicine, Oregon Health and Science University, Portland, OR 97239, USA.

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http://dx.doi.org/10.1194/jlr.M600295-JLR200DOI Listing
December 2006

The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2006 Jul;140(14):1511-8

Department of Pediatrics and Molecular, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, 97207, USA.

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http://dx.doi.org/10.1002/ajmg.a.31294DOI Listing
July 2006

Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency.

Mil Med 2006 Jul;171(7):657-8

Division of Genetics, Tufts-New England Medical Center, Boston, MA 02111, USA.

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http://dx.doi.org/10.7205/milmed.171.7.657DOI Listing
July 2006

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Hum Genet 2006 Feb 30;118(6):680-90. Epub 2005 Nov 30.

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Aarhus, Denmark.

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http://dx.doi.org/10.1007/s00439-005-0070-4DOI Listing
February 2006

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

J Lipid Res 2006 Jan 28;47(1):134-43. Epub 2005 Oct 28.

Departments of Surgery and Biochemistry & Molecular Pharmacology, Thomas Jefferson University College of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1194/jlr.M500306-JLR200DOI Listing
January 2006

Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?

Am J Med Genet A 2005 Dec;139A(2):67-77

Department of Pediatrics, Children's Craniofacial Center, University of Washington and Children's Hospital and Regional Medical Center, Seattle, Washington 98105-5371, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30915
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http://dx.doi.org/10.1002/ajmg.a.30915DOI Listing
December 2005

Clinical profile of a male with Rett syndrome.

Brain Dev 2005 Nov 22;27 Suppl 1:S69-S71. Epub 2005 Sep 22.

Department of Pediatrics, Child Development and Rehabilitation Center, Doernbecher Children's Hospital, Oregon Health and Science University, CDRC 707 SW Gaines Road, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1016/j.braindev.2005.03.018DOI Listing
November 2005

Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome.

Pediatr Res 2005 Jun 17;57(6):765-70. Epub 2005 Mar 17.

Division of Endocrinology, Diabetes and Clinical Nutrition, Oregon Health & Science University, Portland, Oregon 97239, USA.

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http://www.nature.com/doifinder/10.1203/01.PDR.0000157723.98
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http://dx.doi.org/10.1203/01.PDR.0000157723.98422.B5DOI Listing
June 2005

Evidence based medicine in inborn errors of metabolism: is there any and how to find it.

Authors:
Robert D Steiner

Am J Med Genet A 2005 Apr;134A(2):192-7

Department of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Doernbecher Children's Hospital, Oregon Health and Science University, Portland, Oregon, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30594
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http://dx.doi.org/10.1002/ajmg.a.30594DOI Listing
April 2005

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

Mol Genet Metab 2004 Sep-Oct;83(1-2):175-83

Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920400175
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http://dx.doi.org/10.1016/j.ymgme.2004.07.002DOI Listing
March 2005

Evidence based medicine in inborn errors of metabolism: is there any and how to find it.

Authors:
Robert D Steiner

Am J Med Genet A 2005 Apr;134A(2):192-7

Department of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Doernbecher Children's Hospital, Oregon Health and Science University, Portland, Oregon, USA.

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Source
http://doi.wiley.com/10.1002/ajmg.a.30594
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30594DOI Listing
April 2005