Publications by authors named "Cary Harding"

85Publications

A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.

Mol Genet Metab 2020 Sep 30. Epub 2020 Sep 30.

Department of Medical and Molecular Genetics, Oregon Health & Science University, Portland, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.09.005DOI Listing
September 2020

Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.

Mol Genet Metab 2020 Sep 6. Epub 2020 Sep 6.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, United States of America; Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.09.001DOI Listing
September 2020

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.

Mol Genet Metab 2020 08 16;130(4):239-246. Epub 2020 Jun 16.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, 12605 E 16th St, Aurora, CO 80045, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.06.006DOI Listing
August 2020

Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU).

Authors:
Cary O Harding

Mol Front J 2019 Dec 12;3(2):110-121. Epub 2019 Dec 12.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Mailstop L-103, 3181 Sam Jackson Park Rd., Portland, OR 97239, USA.

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http://dx.doi.org/10.1142/s2529732519400145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286632PMC
December 2019

Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls.

Mol Genet Metab Rep 2020 Jun 11;23:100599. Epub 2020 May 11.

Departments Molecular and Medical Genetics, Graduate Programs in Human Nutrition at Oregon Health & Science University, Portland, OR, United States of America.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218298PMC
June 2020

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.

Mol Ther Methods Clin Dev 2020 Jun 24;17:234-245. Epub 2019 Dec 24.

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

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http://dx.doi.org/10.1016/j.omtm.2019.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962637PMC
June 2020

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report.

Mol Genet Metab Rep 2020 Mar 10;22:100555. Epub 2020 Jan 10.

Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, United States of America.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957825PMC
March 2020

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.

Paediatr Drugs 2019 Dec;21(6):413-426

Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s40272-019-00364-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885500PMC
December 2019

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.

Mol Genet Metab 2019 Sep - Oct;128(1-2):92-101. Epub 2019 Aug 7.

Oregon Health & Science University, Portland, OR, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.07.018DOI Listing
April 2020

State-of-the-Art 2019 on Gene Therapy for Phenylketonuria.

Hum Gene Ther 2019 10 9;30(10):1274-1283. Epub 2019 Sep 9.

Division of Metabolism, University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland.

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http://dx.doi.org/10.1089/hum.2019.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763965PMC
October 2019

Response to Letter to the editor.

J Inherit Metab Dis 2019 05 18;42(3):396-397. Epub 2019 Mar 18.

Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/jimd.12077DOI Listing
May 2019

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

Mol Genet Metab 2018 05 31;124(1):27-38. Epub 2018 Mar 31.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.03.006DOI Listing
May 2018

Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial.

Mol Genet Metab 2018 05 18;124(1):20-26. Epub 2018 Mar 18.

Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh and Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183002
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http://dx.doi.org/10.1016/j.ymgme.2018.03.003DOI Listing
May 2018

Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice.

J Inherit Metab Dis 2018 07 8;41(4):709-718. Epub 2018 Mar 8.

Department of Pediatrics, Divisions of Metabolism and of Clinical Chemistry and Biochemistry, University of Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1007/s10545-018-0150-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6041158PMC
July 2018

Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice.

Mol Genet Metab 2018 01 19;123(1):6-20. Epub 2017 Oct 19.

Department of Medical and Molecular Genetics, Oregon Health & Science University, Mailstop L-103, 3181 Sam Jackson Park Rd., Portland, OR 97239, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786171PMC
January 2018

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Mol Genet Metab 2017 11 8;122(3):46-53. Epub 2017 Sep 8.

Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.09.002DOI Listing
November 2017

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.

Am J Med Genet A 2017 Sep 28;173(9):2500-2504. Epub 2017 Jun 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38333DOI Listing
September 2017

Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter.

Mol Ther Nucleic Acids 2017 Jun 20;7:339-349. Epub 2017 Apr 20.

Division of Metabolism and Children's Research Centre (CRC), University Children's Hospital, 8032 Zurich, Switzerland; Zurich Center for Integrative Human Physiology (ZIHP) and Neuroscience Center Zurich (ZNZ), 8008 Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2017.04.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423318PMC
June 2017

Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.

Ophthalmic Genet 2016 12 15;37(4):404-414. Epub 2016 Mar 15.

a Casey Eye Institute, Oregon Health & Science University , Portland , Oregon , USA.

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http://dx.doi.org/10.3109/13816810.2015.1121500DOI Listing
December 2016

Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs.

Cell Stem Cell 2016 05 14;18(5):625-36. Epub 2016 Apr 14.

Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University, 3303 SW Bond Avenue, Portland, OR 97239, USA; Division of Reproductive and Developmental Sciences, Oregon National Primate Research Center, Oregon Health & Science University, 505 NW 185th Avenue, Beaverton, OR 97006, USA; Department of Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA; Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA; Knight Cardiovascular Institute, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA; Department of Biomedical Engineering, Oregon Health & Science University, 3303 SW Bond Avenue, Portland, OR 97239, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2016.02.005DOI Listing
May 2016

Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food-based diets.

Nutr Res 2016 Jan 14;36(1):101-8. Epub 2015 Nov 14.

Graduate Programs in Human Nutrition, Oregon Health & Science University, Gaines Hall, Mailcode GH207, 840 SW Gaines Rd, Portland, OR 97239, USA; Department of Molecular and Medical Genetics, Oregon Health and Science University, Richard Jones Hall, Mailcode L103, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nutres.2015.11.007DOI Listing
January 2016

High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).

Mol Genet Metab 2016 Jan 26;117(1):5-11. Epub 2015 Nov 26.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Mailstop L-103, 3181 Sam Jackson Park Rd., Portland, OR 97239, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706464PMC
January 2016

A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver.

Mol Ther Nucleic Acids 2014 Sep 16;3:e193. Epub 2014 Sep 16.

Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid, CIBERER, IdiPaz, Madrid, Spain.

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http://dx.doi.org/10.1038/mtna.2014.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222650PMC
September 2014

Use of propofol for short duration procedures in children with long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiencies.

Mol Genet Metab 2014 Jun 6;112(2):139-42. Epub 2014 Apr 6.

Department of Molecular & Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192140011
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http://dx.doi.org/10.1016/j.ymgme.2014.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121654PMC
June 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liver.

Hepatology 2014 Sep 29;60(3):1035-43. Epub 2014 Jul 29.

Division of Metabolism, Department of Pediatrics, University of Zurich, Zurich, Switzerland; and affiliated with the Children's Research Center Zurich.

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http://dx.doi.org/10.1002/hep.27104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449723PMC
September 2014

Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU).

J Inherit Metab Dis 2014 Sep 3;37(5):735-43. Epub 2014 Feb 3.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Mailstop L-103, 3181 Sam Jackson Park Rd., Portland, OR, 97239, USA,

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http://link.springer.com/10.1007/s10545-013-9675-2
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http://dx.doi.org/10.1007/s10545-013-9675-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119869PMC
September 2014

Seeking a cure for the royal pain.

Authors:
Cary O Harding

Hum Gene Ther 2013 Dec;24(12):968-9

Departments of Molecular and Medical Genetics, and Pediatrics, Oregon Health & Science University , Portland, OR 97239.

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http://dx.doi.org/10.1089/hum.2013.2522DOI Listing
December 2013

Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder.

Am J Physiol Endocrinol Metab 2013 Nov 24;305(10):E1299-308. Epub 2013 Sep 24.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon;

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http://dx.doi.org/10.1152/ajpendo.00225.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3840216PMC
November 2013

Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.

Hum Mutat 2013 Mar 22;34(3):473-80. Epub 2013 Jan 22.

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Gifu, Japan.

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http://dx.doi.org/10.1002/humu.22258DOI Listing
March 2013

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

Mol Genet Metab 2012 May 8;106(1):18-24. Epub 2012 Mar 8.

Department of Molecular & Medical Genetics, School of Medicine, Oregon Health & Science University, Mail Code L-103, 3181 SW Sam Jackson Park Rd Portland, OR 97239, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506186PMC
May 2012

Up to date knowledge on different treatment strategies for phenylketonuria.

Mol Genet Metab 2011 16;104 Suppl:S19-25. Epub 2011 Aug 16.

Division of Metabolic Diseases, Pediatrics Department, Ramon y Cajal Hospital, Madrid, Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192110026
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http://dx.doi.org/10.1016/j.ymgme.2011.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437510PMC
March 2012

Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).

Mol Genet Metab 2011 Nov 4;104(3):235-40. Epub 2011 Aug 4.

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

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http://dx.doi.org/10.1016/j.ymgme.2011.07.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219060PMC
November 2011

Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.

Pediatrics 2011 Jul 13;128(1):e246-50. Epub 2011 Jun 13.

Department of Pediatrics, University of Minnesota Medical School, MMC 8404 13-124 PWB, 516 Delaware St SE, Minneapolis, MN 55455, USA.

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http://dx.doi.org/10.1542/peds.2010-3918DOI Listing
July 2011

Advances and challenges in phenylketonuria.

J Inherit Metab Dis 2010 Dec;33(6):645-8

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http://dx.doi.org/10.1007/s10545-010-9247-7DOI Listing
December 2010

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride.

Authors:
Cary O Harding

Biologics 2010 Aug 9;4:231-6. Epub 2010 Aug 9.

Departments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2921259PMC
http://dx.doi.org/10.2147/btt.s3015DOI Listing
August 2010

EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY.

Top Clin Nutr 2009 Oct;24(4):359-365

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

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/TIN.0b013e3181c62182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892921PMC
October 2009

Therapeutic liver repopulation for phenylketonuria.

J Inherit Metab Dis 2010 Dec 22;33(6):681-7. Epub 2010 May 22.

Department of Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Mail code L103, Portland, OR 97239, USA.

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http://dx.doi.org/10.1007/s10545-010-9099-1DOI Listing
December 2010

Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice.

Blood 2010 Apr 22;115(16):3374-81. Epub 2010 Feb 22.

Department of Cell and Developmental Biology, Oregon Health & Science University, Portland, OR, USA.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2009-09-24
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http://dx.doi.org/10.1182/blood-2009-09-245209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858491PMC
April 2010

NORMAL FATTY ACID CONCENTRATIONS IN YOUNG CHILDREN WITH PHENYLKETONURIA (PKU).

Top Clin Nutr 2009 Oct;24(4):333-340

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

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http://dx.doi.org/10.1097/TIN.0b013e3181c621faDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2791413PMC
October 2009

Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria.

Hum Gene Ther 2010 Apr;21(4):463-77

Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zürich, CH-8032 Zürich, Switzerland.

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http://dx.doi.org/10.1089/hum.2009.127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865356PMC
April 2010

Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency.

South Med J 2008 May;101(5):543-5

Division of Hematology and Medical Oncology and Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.

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http://dx.doi.org/10.1097/SMJ.0b013e31816bf5ccDOI Listing
May 2008

Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system.

Mol Ther 2008 Apr 11;16(4):673-81. Epub 2008 Mar 11.

Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zürich, Zürich, Switzerland.

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http://linkinghub.elsevier.com/retrieve/pii/S152500161631448
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http://dx.doi.org/10.1038/mt.2008.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694057PMC
April 2008

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Mol Genet Metab 2008 Apr 21;93(4):363-70. Epub 2007 Dec 21.

Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.11.002DOI Listing
April 2008

Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria.

Mol Ther 2005 Aug;12(2):337-44

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

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http://dx.doi.org/10.1016/j.ymthe.2005.03.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694052PMC
August 2005

Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.

Mol Genet Metab 2005 Sep-Oct;86(1-2):250-6. Epub 2005 Jul 22.

Department of Pediatrics, Division of Genetics, State University of New York at Buffalo, Buffalo, NY 14209, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500179
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http://dx.doi.org/10.1016/j.ymgme.2005.06.002DOI Listing
January 2006

The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria.

Mol Genet Metab 2004 Jan;81(1):52-7

Departments of Pediatrics, Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, OR, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694038PMC
http://dx.doi.org/10.1016/j.ymgme.2003.10.002DOI Listing
January 2004

State-of-the-art 2003 on PKU gene therapy.

Mol Genet Metab 2004 Jan;81(1):3-8

Department of Pediatrics, University of Zürich, Steinwiesstrasse 75, CH-8032, Zürich, Switzerland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706831PMC
http://dx.doi.org/10.1016/j.ymgme.2003.09.010DOI Listing
January 2004

Hand it to the skin in Costello syndrome.

J Pediatr 2004 Jan;144(1):135

Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1016/S0022-3476(03)00346-9DOI Listing
January 2004

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

Hum Mol Genet 2003 Oct 19;12(20):2693-702. Epub 2003 Aug 19.

Montreal Neurological Institute, Department of Human Genetics, McGill University, Montreal, H3A 2B4, Canada.

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http://dx.doi.org/10.1093/hmg/ddg284DOI Listing
October 2003

Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate.

J Perinatol 2003 Jul-Aug;23(5):384-6

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

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http://dx.doi.org/10.1038/sj.jp.7210955DOI Listing
September 2003

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Mol Genet Metab 2003 Jun;79(2):114-23

Departments of Pediatrics and Molecular and Medical Genetics, Oregon Health and Science University (OHSU), Mail code CDRC-F, P.O. Box 574, Portland, OR 97207-0574, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813192PMC
http://dx.doi.org/10.1016/s1096-7192(03)00073-8DOI Listing
June 2003

L-2-oxothiazolidine-4-carboxylate supplementation in murine gamma-GT deficiency.

Free Radic Biol Med 2003 Jun;34(11):1482-7

Departments of Pediatrics and Molecular and Medical Genetics, Oregon Health and Sciences University, 707 SW Gaines Road, Portland, OR 97239, USA.

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http://dx.doi.org/10.1016/s0891-5849(03)00181-3DOI Listing
June 2003

L-carnitine administration reduces number of episodes in cyclic vomiting syndrome.

Clin Pediatr (Phila) 2002 Apr;41(3):171-4

Biochemical Genetics Program, Waisman Center, University of Wisconsin-Madison, USA.

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http://dx.doi.org/10.1177/000992280204100307DOI Listing
April 2002