Publications by authors named "Tadao Orii"

75Publications

Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis.

Diagnostics (Basel) 2020 Feb 16;10(2). Epub 2020 Feb 16.

Department of Pediatrics, Gifu University Graduate School of Medicine, Yanagido 1-1, Gifu 501-1194, Japan.

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http://dx.doi.org/10.3390/diagnostics10020105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168249PMC
February 2020

Takashi Hashimoto, Professor Emeritus at the Department of Biochemistry, Shinshu University Graduate School of Medicine, Matsumoto, Japan (b 14 March 1933; q 1962 at the University of Tokyo; d 18 April 2019; Japan).

J Inherit Metab Dis 2020 Mar 28;43(2):377-378. Epub 2020 Jan 28.

Department of Pediatrics, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/jimd.12168DOI Listing
March 2020

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation.

Diagnostics (Basel) 2020 Jan 16;10(1). Epub 2020 Jan 16.

Nemours/Alfred I. Dupont Hospital for Children, 1600 Rockland Rd., Wilmington, DE 19803, USA.

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http://dx.doi.org/10.3390/diagnostics10010046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168225PMC
January 2020

Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future.

J Hum Genet 2019 Nov 27;64(11):1153-1171. Epub 2019 Aug 27.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

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http://dx.doi.org/10.1038/s10038-019-0662-9DOI Listing
November 2019

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.

Biol Blood Marrow Transplant 2019 07 14;25(7):e226-e246. Epub 2019 Feb 14.

Department of Biomedical, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2019.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6615945PMC
July 2019

Critical review of current MPS guidelines and management.

Mol Genet Metab 2019 03 7;126(3):238-245. Epub 2018 Jul 7.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183035
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http://dx.doi.org/10.1016/j.ymgme.2018.07.001DOI Listing
March 2019

Clinical presentation and diagnosis of mucopolysaccharidoses.

Mol Genet Metab 2018 09 31;125(1-2):4-17. Epub 2018 Jan 31.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Biological Sciences, University of Delaware, Newark, DE, United States; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States; Department of Pediatrics, Shimane University, Shimane, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.01.003DOI Listing
September 2018

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis.

Mol Genet Metab 2018 09 17;125(1-2):44-52. Epub 2018 May 17.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175648PMC
September 2018

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.

Mol Genet Metab 2018 09 15;125(1-2):18-37. Epub 2018 May 15.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175643PMC
September 2018

Growth impairment in mucopolysaccharidoses.

Mol Genet Metab 2018 05 16;124(1):1-10. Epub 2018 Mar 16.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966322PMC
May 2018

Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).

Expert Opin Orphan Drugs 2017 8;5(4):295-307. Epub 2017 Mar 8.

Department of Biological Sciences, University of Delaware, Newark, DE, USA.

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http://dx.doi.org/10.1080/21678707.2017.1296761DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693349PMC
March 2017

Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.

Biol Blood Marrow Transplant 2017 Oct 1;23(10):1795-1803. Epub 2017 Jul 1.

Department of Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2017.06.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659208PMC
October 2017

Development of Bone Targeting Drugs.

Int J Mol Sci 2017 Jun 23;18(7). Epub 2017 Jun 23.

Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA.

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http://dx.doi.org/10.3390/ijms18071345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535838PMC
June 2017

Epidemiology of mucopolysaccharidoses.

Mol Genet Metab 2017 07 26;121(3):227-240. Epub 2017 May 26.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653283PMC
July 2017

Current therapies for Morquio A syndrome and their clinical outcomes.

Expert Opin Orphan Drugs 2016 28;4(9):941-951. Epub 2016 Jul 28.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Pediatrics, Gifu University, Gifu, Japan.

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http://dx.doi.org/10.1080/21678707.2016.1214572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312776PMC
July 2016

Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

Mol Genet Metab 2017 03 22;120(3):247-254. Epub 2016 Dec 22.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346460PMC
March 2017

Mucopolysaccharidosis IVA and glycosaminoglycans.

Mol Genet Metab 2017 Jan - Feb;120(1-2):78-95. Epub 2016 Nov 29.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5293636PMC
August 2017

Glycosaminoglycans detection methods: Applications of mass spectrometry.

Mol Genet Metab 2017 Jan - Feb;120(1-2):67-77. Epub 2016 Sep 28.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Biological Sciences, University of Delaware, Newark, DE, USA; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Gifu University, Gifu, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477676PMC
August 2017

Hematopoietic stem cell transplantation for Morquio A syndrome.

Mol Genet Metab 2016 Feb 1;117(2):84-94. Epub 2015 Oct 1.

Department of Pediatrics, Gifu University, Gifu, Japan; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.09.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016080PMC
February 2016

Obstructive airway in Morquio A syndrome, the past, the present and the future.

Mol Genet Metab 2016 Feb 21;117(2):150-6. Epub 2015 Sep 21.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755902PMC
February 2016

Non-invasive pulmonary function test on Morquio patients.

Mol Genet Metab 2015 Aug 23;115(4):186-92. Epub 2015 Jun 23.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Center for Pediatric Lung Research, Nemours/Alfred I. DuPont Hospital for Children, Wilmington, DE, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706533PMC
August 2015

Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation.

Mol Genet Metab 2015 Feb 8;114(2):161-9. Epub 2014 Nov 8.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Pediatrics, Gifu University, School of Medicine, Gifu, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312709PMC
February 2015

Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome.

Mol Genet Metab Rep 2014 ;1:184-196

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE ; Department of Pediatrics, Gifu University, School of Medicine, Gifu, Japan.

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http://dx.doi.org/10.1016/j.ymgmr.2014.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104387PMC
January 2014

Growth charts for patients with Hunter syndrome.

Mol Genet Metab Rep 2014 ;1:5-18

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

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http://dx.doi.org/10.1016/j.ymgmr.2013.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060980PMC
January 2014

Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?

Mol Genet Metab 2015 Feb 4;114(2):195-202. Epub 2014 Jun 4.

Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256128PMC
February 2015

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Mol Genet Metab 2013 Sep-Oct;110(1-2):129-38. Epub 2013 Jun 26.

Department of Endocrinology, Metabolism & Genetics, Vietnam National Hospital of Pediatrics, Hanoi, Viet Nam.

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http://dx.doi.org/10.1016/j.ymgme.2013.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3779837PMC
March 2014

Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome.

Mol Ther 2010 Jun 23;18(6):1094-102. Epub 2010 Mar 23.

Department of Pediatrics, Saint Louis University, St Louis, Missouri 63104, USA.

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http://dx.doi.org/10.1038/mt.2010.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889747PMC
June 2010

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry.

J Inherit Metab Dis 2010 Dec 27;33 Suppl 3:S35-42. Epub 2010 Jan 27.

Department of Pediatrics, Saint Louis University Doisy Research Center, 1100 South Grand Blvd, St Louis, MO 63104, USA.

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http://dx.doi.org/10.1007/s10545-009-9013-xDOI Listing
December 2010

Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).

Mol Genet Metab 2010 Jan;99(1):18-25

Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920900246
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http://dx.doi.org/10.1016/j.ymgme.2009.08.006DOI Listing
January 2010

Psychological status of patients with mucopolysaccharidosis type II and their parents.

Pediatr Int 2009 Feb;51(1):41-7

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

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http://dx.doi.org/10.1111/j.1442-200X.2008.02652.xDOI Listing
February 2009

Growth charts for patients affected with Morquio A disease.

Am J Med Genet A 2008 May;146A(10):1286-95

Department of Pediatrics, Saint Louis University, St. Louis, Missouri 63104, USA.

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http://dx.doi.org/10.1002/ajmg.a.32281DOI Listing
May 2008

Enzyme replacement therapy in a murine model of Morquio A syndrome.

Hum Mol Genet 2008 Mar 3;17(6):815-24. Epub 2007 Dec 3.

Department of Pediatrics, St Louis University, Doisy Research Center, 1100 South Grand Blvd., Room 307, St Louis, MO 63104, USA.

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http://dx.doi.org/10.1093/hmg/ddm353DOI Listing
March 2008

Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.

Mol Genet Metab 2007 Jul 10;91(3):251-8. Epub 2007 May 10.

Department of Pediatrics, Saint Louis University, Pediatric Research Institute, 3662 Park Ave., St. Louis, MO 63110-2586, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.009DOI Listing
July 2007

Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase.

Mol Genet Metab 2007 May 2;91(1):69-78. Epub 2007 Mar 2.

Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St Louis, MO 63110-2586, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.01.004DOI Listing
May 2007

Evaluation of ADL in patients with Hunter disease using FIM score.

Brain Dev 2007 Jun 20;29(5):298-305. Epub 2007 Feb 20.

Department of Pediatrics, Gifu University Graduate School of Medicine, Yanagido 1-1, Gifu 501-1194, Japan.

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http://dx.doi.org/10.1016/j.braindev.2006.08.015DOI Listing
June 2007

Portal hypertension in a patient with Hunter disease.

J Inherit Metab Dis 2006 Oct 5;29(5):686. Epub 2006 Aug 5.

Medical Education Development Center, Gifu University Graduate School of Medicine, Gifu, Japan.

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http://dx.doi.org/10.1007/s10545-006-0308-xDOI Listing
October 2006

Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.

Mol Genet Metab 2006 Sep-Oct;89(1-2):139-49. Epub 2006 Jul 11.

Department of Pediatrics, Cardinal Glennon Children's Hospital, Saint Louis University, 1465 S. Grand Blvd., St. Louis, MO 63104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.05.012DOI Listing
October 2006

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

Hum Mutat 2005 Dec;26(6):500-12

Department of Pediatrics, Pediatric Research Institute, Saint Louis University, St. Louis, Missouri 63110-2586, USA.

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http://dx.doi.org/10.1002/humu.20257DOI Listing
December 2005

Defining the pathway for Tat-mediated delivery of beta-glucuronidase in cultured cells and MPS VII mice.

Mol Ther 2005 Aug;12(2):345-52

Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, 1402 South Grand Boulevard, St. Louis, MO 63104, USA.

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http://dx.doi.org/10.1016/j.ymthe.2005.02.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2587041PMC
August 2005

General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.

Hum Mutat 2004 Jun;23(6):590-8

Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, Missouri 63110-2586, USA.

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http://dx.doi.org/10.1002/humu.20046DOI Listing
June 2004

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.

Hum Mol Genet 2003 Dec 28;12(24):3349-58. Epub 2003 Oct 28.

Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, 1402 S. Grand Blvd, St Louis, MO 63104, USA.

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http://dx.doi.org/10.1093/hmg/ddg366DOI Listing
December 2003

Epidemiology of X-linked adrenoleukodystrophy in Japan.

J Hum Genet 2002 ;47(11):590-3

Department of Pediatrics Gifu, University School of Medicine, 40 Tsukasa-machi, Gifu 500-8705, Japan.

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http://dx.doi.org/10.1007/s100380200090DOI Listing
January 2003

Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.

Proc Natl Acad Sci U S A 2002 Nov 28;99(23):14982-7. Epub 2002 Oct 28.

Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, MO 63104, USA.

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http://dx.doi.org/10.1073/pnas.232570999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC137531PMC
November 2002

Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides.

Genomics 2002 Mar;79(3):363-75

E. A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, 1402 S. Grand Blvd., St. Louis, Missouri, 63104, USA.

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http://dx.doi.org/10.1006/geno.2002.6706DOI Listing
March 2002