Publications by authors named "Kenji Orii"

53Publications

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

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

Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.

Cell Death Dis 2018 07 24;9(8):808. Epub 2018 Jul 24.

Department of Biochemistry, Institute of Biomedical & Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.

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http://www.nature.com/articles/s41419-018-0871-8
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http://dx.doi.org/10.1038/s41419-018-0871-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057917PMC
July 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

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

Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.

J Clin Immunol 2017 Aug 12;37(6):529-538. Epub 2017 Jul 12.

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

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http://link.springer.com/10.1007/s10875-017-0417-3
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http://dx.doi.org/10.1007/s10875-017-0417-3DOI Listing
August 2017

Acute dystonia associated with aripiprazole overdose in an adolescent boy.

Asian J Psychiatr 2017 Oct 5;29:183-184. Epub 2017 Jul 5.

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

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http://dx.doi.org/10.1016/j.ajp.2017.07.021DOI Listing
October 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

Neonatal dysphonia caused by subglottic infantile hemangioma.

Pediatr Int 2017 Aug 28;59(8):935-936. Epub 2017 Jun 28.

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

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http://dx.doi.org/10.1111/ped.13308DOI Listing
August 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

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

A complement factor B mutation in a large kindred with atypical hemolytic uremic syndrome.

J Clin Immunol 2014 Aug 8;34(6):691-5. Epub 2014 Jun 8.

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

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http://dx.doi.org/10.1007/s10875-014-0058-8DOI Listing
August 2014

Ketone body metabolism and its defects.

J Inherit Metab Dis 2014 Jul 8;37(4):541-51. Epub 2014 Apr 8.

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

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http://dx.doi.org/10.1007/s10545-014-9704-9DOI Listing
July 2014

Successful treatment of pediatric immune thrombocytopenic purpura associated with ulcerative colitis.

Pediatr Int 2011 Oct;53(5):771-773

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

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http://dx.doi.org/10.1111/j.1442-200X.2010.03308.xDOI Listing
October 2011

Pediatric acute lymphoblastic leukemia mimicking Henoch-Schönlein purpura.

Pediatr Int 2011 Oct;53(5):766-768

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

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http://dx.doi.org/10.1111/j.1442-200X.2011.03445.xDOI Listing
October 2011

Apparition of iodinated contrast agents in twin neonatal gastrointestinal tracts after maternal contrast-enhanced computed tomography.

Jpn J Radiol 2011 Aug 1;29(7):521-3. Epub 2011 Sep 1.

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

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http://dx.doi.org/10.1007/s11604-011-0580-zDOI Listing
August 2011

Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy.

Pediatr Radiol 2010 Dec 23;40 Suppl 1:S127-9. Epub 2010 Jun 23.

Molecular and Cellular Biology, Harvard University, Cambridge, USA.

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http://dx.doi.org/10.1007/s00247-010-1724-5DOI Listing
December 2010

Congenital inner ear malformations without sensorineural hearing loss in children.

Int J Pediatr Otorhinolaryngol 2009 Oct 19;73(10):1484-7. Epub 2009 Aug 19.

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

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http://dx.doi.org/10.1016/j.ijporl.2009.07.013DOI Listing
October 2009

Translocation (1;10)(p34;p15) in infant acute myeloid leukemia with extramedullary infiltration in multiple sites.

Cancer Genet Cytogenet 2009 Jul;192(2):86-9

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

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http://dx.doi.org/10.1016/j.cancergencyto.2009.04.010DOI Listing
July 2009

Structural basis for the multiple interactions of the MyD88 TIR domain in TLR4 signaling.

Proc Natl Acad Sci U S A 2009 Jun 8;106(25):10260-5. Epub 2009 Jun 8.

Department of Pediatrics, Graduate School of Medicine, Center for Emerging Infectious Diseases, and Center for Advanced Drug Research, Gifu University, Gifu, Japan.

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http://dx.doi.org/10.1073/pnas.0812956106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2693180PMC
June 2009

Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency.

Proc Natl Acad Sci U S A 2009 Feb 21;106(6):1880-5. Epub 2009 Jan 21.

Department of Genetics and Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.

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http://dx.doi.org/10.1073/pnas.0806882106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2644132PMC
February 2009

Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness.

Mol Med Rep 2009 Jan-Feb;2(1):69-72

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

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http://dx.doi.org/10.3892/mmr_00000063DOI Listing
October 2012

Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase.

Tohoku J Exp Med 2008 Jul;215(3):227-36

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

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http://dx.doi.org/10.1620/tjem.215.227DOI Listing
July 2008

A positive Donath-Landsteiner test in paroxysmal cold haemoglobinuria.

Eur J Haematol 2007 Nov 28;79(5):462. Epub 2007 Aug 28.

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

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http://doi.wiley.com/10.1111/j.1600-0609.2007.00932.x
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http://dx.doi.org/10.1111/j.1600-0609.2007.00932.xDOI Listing
November 2007

Acute mumps cerebellitis with abnormal findings in MRI diffusion-weighted images.

Eur J Pediatr 2008 Jul 10;167(7):829-30. Epub 2007 Aug 10.

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

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http://dx.doi.org/10.1007/s00431-007-0574-0DOI Listing
July 2008

Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development.

Proc Natl Acad Sci U S A 2006 Jun 15;103(26):10017-22. Epub 2006 Jun 15.

Department of Genetics and Tumor Cell Biology, St. Jude Children's Research Hospital, 332 N. Lauderdale, Memphis, TN 38105, USA.

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http://dx.doi.org/10.1073/pnas.0602436103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502498PMC
June 2006

MR imaging and 1H-MR spectroscopy in a case of juvenile Alexander disease.

Brain Dev 2002 Oct;24(7):723-6

Department of Pediatrics, Gifu Prefectural Gifu Hospital, Gifu 500-8717, Japan.

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http://dx.doi.org/10.1016/s0387-7604(02)00080-3DOI Listing
October 2002