Publications by authors named "Masao Kobayashi"

100Publications

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.

J Clin Immunol 2020 Oct 20. Epub 2020 Oct 20.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Science, 1-2-3 Kasumi, Minami-Ku, Hiroshima-Shi, Hiroshima, 734-8551, Japan.

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http://dx.doi.org/10.1007/s10875-020-00885-5DOI Listing
October 2020

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

J Clin Immunol 2020 Nov 27;40(8):1065-1081. Epub 2020 Aug 27.

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1007/s10875-020-00847-xDOI Listing
November 2020

[Disseminated Aspergillus siamensis infection following haploidentical bone marrow transplantation for chronic granulomatous disease].

Rinsho Ketsueki 2020 ;61(4):327-333

Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital.

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http://dx.doi.org/10.11406/rinketsu.61.327DOI Listing
July 2020

Impact of graft-versus-host disease on the clinical outcome of allogeneic hematopoietic stem cell transplantation for non-malignant diseases.

Int J Hematol 2020 Jun 12;111(6):869-876. Epub 2020 Feb 12.

Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.

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http://dx.doi.org/10.1007/s12185-020-02839-4DOI Listing
June 2020

Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice.

Int Immunol 2020 04;32(4):259-272

Department of Pediatrics, Graduate School of Biomedical & Health Sciences, Hiroshima University, Hiroshima, Japan.

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http://dx.doi.org/10.1093/intimm/dxz079DOI Listing
April 2020

A Case in Which Oral Baclofen Was Effective for Dysphagia Associated With Acute Flaccid Myelitis by Enterovirus D68.

Pediatr Infect Dis J 2019 10;38(10):e277

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

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http://dx.doi.org/10.1097/INF.0000000000002390DOI Listing
October 2019

Supplemental education in early childhood may be associated with professional achievement.

Int J Med Educ 2019 May 24;10:106-110. Epub 2019 May 24.

Department of Pediatrics, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan.

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http://www.ijme.net/archive/10/association-of-childhood-less
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http://dx.doi.org/10.5116/ijme.5cda.79abDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773365PMC
May 2019

High Incidence of Renal Stones in Severely Disabled Children with Epilepsy Treated with Topiramate.

Neuropediatrics 2019 06 2;50(3):160-163. Epub 2019 Apr 2.

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

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http://dx.doi.org/10.1055/s-0038-1676287DOI Listing
June 2019

Clinical profiles associated with serum perampanel concentrations in children with refractory epilepsy.

Epilepsy Behav 2019 05 18;94:82-86. Epub 2019 Mar 18.

Department of Pediatrics, Hiroshima University Hospital, Japan.

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http://dx.doi.org/10.1016/j.yebeh.2019.02.004DOI Listing
May 2019

[A Case of Polyarteritis Nodosa Diagnosed from Pathological Findings of Refractory Epididymitis].

Hinyokika Kiyo 2018 Dec;64(12):515-518

The Department of Urology, Higashiosaka City Medical Center.

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http://dx.doi.org/10.14989/ActaUrolJap_64_12_515DOI Listing
December 2018

Prophylaxis and treatment with mycophenolate mofetil in children with graft-versus-host disease undergoing allogeneic hematopoietic stem cell transplantation: a nationwide survey in Japan.

Int J Hematol 2019 Apr 29;109(4):491-498. Epub 2019 Jan 29.

Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital, 3-35 Michishita-cho, Nakamura-ku, Nagoya, 453-8511, Japan.

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http://dx.doi.org/10.1007/s12185-019-02601-5DOI Listing
April 2019

Exon skipping in CYBB mRNA and skewed inactivation of X chromosome cause late-onset chronic granulomatous disease.

Pediatr Hematol Oncol 2018 Aug - Sep;35(5-6):341-349. Epub 2019 Jan 11.

a Department of Pediatrics , Ehime University Graduate School of Medicine , Toon , Ehime , Japan.

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https://www.tandfonline.com/doi/full/10.1080/08880018.2018.1
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http://dx.doi.org/10.1080/08880018.2018.1522402DOI Listing
March 2019

Human granulocytes undergo cell death via autophagy.

Cell Death Discov 2018 5;4:111. Epub 2018 Dec 5.

2Department of Pediatrics, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan.

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http://www.nature.com/articles/s41420-018-0131-9
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http://dx.doi.org/10.1038/s41420-018-0131-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281597PMC
December 2018

Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation.

Brain Dev 2018 Nov 4;40(10):943-946. Epub 2018 Jul 4.

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.06.011DOI Listing
November 2018

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

J Allergy Clin Immunol 2018 12 4;142(6):1932-1946. Epub 2018 May 4.

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.02.055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215742PMC
December 2018

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Cell 2018 02;172(5):952-965.e18

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France.

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http://dx.doi.org/10.1016/j.cell.2018.02.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886375PMC
February 2018

Adult-onset primary cyclic autoimmune neutropenia: a case report.

Transfusion 2018 04 5;58(4):884-890. Epub 2018 Feb 5.

Department of Hematology, Kobe City Medical Center General Hospital, Chuo-ku, Kobe, Japan.

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http://dx.doi.org/10.1111/trf.14513DOI Listing
April 2018

[A Case of Fulminant Hepatitis after Administration of Abiraterone Acetate].

Hinyokika Kiyo 2017 Nov;63(11):479-482

The Department of Urology, Higashiosaka City Medical Center.

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http://dx.doi.org/10.14989/ActaUrolJap_63_11_479DOI Listing
November 2017

Characteristic clinical features of adipsic hypernatremia patients with subfornical organ-targeting antibody.

Clin Pediatr Endocrinol 2017 28;26(4):197-205. Epub 2017 Sep 28.

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

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http://dx.doi.org/10.1297/cpe.26.197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5627220PMC
September 2017

Anti-human neutrophil antigen-1a, -1b, and -2 antibodies in neonates and children with immune neutropenias analyzed by extracted granulocyte antigen immunofluorescence assay.

Transfusion 2017 11 20;57(11):2586-2594. Epub 2017 Aug 20.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.

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http://dx.doi.org/10.1111/trf.14291DOI Listing
November 2017

A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.

Front Endocrinol (Lausanne) 2017 10;8:157. Epub 2017 Jul 10.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.

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http://dx.doi.org/10.3389/fendo.2017.00157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502255PMC
July 2017

Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia.

Clin J Gastroenterol 2017 Aug 9;10(4):383-387. Epub 2017 Jun 9.

Department of Gastroenterology and Metabolism, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.

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http://dx.doi.org/10.1007/s12328-017-0753-0DOI Listing
August 2017

Development of cystic malacia after high-dose cranial irradiation of pediatric CNS tumors in long-term follow-up.

Childs Nerv Syst 2017 Jun 4;33(6):957-964. Epub 2017 Apr 4.

Department of Neurosurgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.

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http://dx.doi.org/10.1007/s00381-017-3400-7DOI Listing
June 2017

BATF2 inhibits immunopathological Th17 responses by suppressing expression during infection.

J Exp Med 2017 05 29;214(5):1313-1331. Epub 2017 Mar 29.

Department of Microbiology and Immunology, Graduate School of Medicine, Osaka University, Suita, Osaka 565-0871, Japan

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http://www.jem.org/lookup/doi/10.1084/jem.20161076
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http://dx.doi.org/10.1084/jem.20161076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413328PMC
May 2017

Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.

J Biol Chem 2017 04 3;292(15):6240-6254. Epub 2017 Mar 3.

From the Department of Technology Development, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu-Shi, Chiba-Ken, 292-0818.

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http://dx.doi.org/10.1074/jbc.M116.753848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391754PMC
April 2017

Recurrence of Epileptic Spasms as Reflex Seizures Induced by Eating: A Case Report and Literature Review.

Neuropediatrics 2017 Apr 23;48(2):119-122. Epub 2017 Jan 23.

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1598111
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http://dx.doi.org/10.1055/s-0037-1598111DOI Listing
April 2017

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.

Clin Transl Immunology 2016 Dec 2;5(12):e114. Epub 2016 Dec 2.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.

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http://dx.doi.org/10.1038/cti.2016.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5192062PMC
December 2016

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

Mol Genet Metab 2016 12 21;119(4):322-328. Epub 2016 Oct 21.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.10.007DOI Listing
December 2016

Effective Treatment of a Childhood Blastic Plasmacytoid Dendritic Cell Neoplasm with a Cutaneous Tumor Alone by Stem Cell Transplantation with Reduced Intensity Conditioning.

Indian J Hematol Blood Transfus 2016 Jun 21;32(Suppl 1):26-31. Epub 2015 Apr 21.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.

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http://dx.doi.org/10.1007/s12288-015-0543-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925505PMC
June 2016

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood 2016 06 25;127(25):3154-64. Epub 2016 Apr 25.

Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Infectious and Tropical Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1182/blood-2015-11-679902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920021PMC
June 2016

Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.

Mol Genet Metab 2016 May 29;118(1):9-14. Epub 2015 Dec 29.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2015.12.011DOI Listing
May 2016

Early eradication of factor VIII inhibitor in patients with congenital hemophilia A by immune tolerance induction with a high dose of immunoglobulin.

Int J Hematol 2016 Apr 1;103(4):473-7. Epub 2016 Feb 1.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.

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http://dx.doi.org/10.1007/s12185-016-1943-0DOI Listing
April 2016

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.

J Clin Immunol 2016 Jan 8;36(1):28-32. Epub 2015 Dec 8.

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

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http://dx.doi.org/10.1007/s10875-015-0221-xDOI Listing
January 2016

Remission of autoimmune neutropenia after development of Kawasaki disease.

Pediatr Int 2015 Oct 10;57(5):1012-4. Epub 2015 Sep 10.

Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Minamikogushi, Ube, Yamaguchi, Japan.

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http://doi.wiley.com/10.1111/ped.12701
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http://dx.doi.org/10.1111/ped.12701DOI Listing
October 2015

[Neutrophil disorders: diagnosis and hematopoietic stem cell transplantation].

Authors:
Masao Kobayashi

Rinsho Ketsueki 2015 Oct;56(10):2230-9

Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences.

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http://dx.doi.org/10.11406/rinketsu.56.2230DOI Listing
October 2015

Perceived Parenting Mediates Serotonin Transporter Gene (5-HTTLPR) and Neural System Function during Facial Recognition: A Pilot Study.

PLoS One 2015 29;10(9):e0134685. Epub 2015 Sep 29.

Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima City, Hiroshima, Japan; Phoenix Leader Education Program, Hiroshima University, Hiroshima City, Hiroshima, Japan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0134685PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587980PMC
June 2016

Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia.

Childs Nerv Syst 2016 Feb 1;32(2):395-8. Epub 2015 Aug 1.

Department of Neurosurgery, Institute of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.

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http://dx.doi.org/10.1007/s00381-015-2848-6DOI Listing
February 2016

Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome.

Brain Dev 2016 Jan 17;38(1):109-12. Epub 2015 Jun 17.

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

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http://dx.doi.org/10.1016/j.braindev.2015.06.002DOI Listing
January 2016

Mosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia.

J Clin Immunol 2015 Jul 26;35(5):512-6. Epub 2015 Apr 26.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.

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http://link.springer.com/content/pdf/10.1007%2Fs10875-015-01
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http://link.springer.com/10.1007/s10875-015-0165-1
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http://dx.doi.org/10.1007/s10875-015-0165-1DOI Listing
July 2015

The postirradiation incidence of cavernous angioma is higher in patients with childhood pineoblastoma or primitive neuroectodermal tumors than medulloblastoma.

Childs Nerv Syst 2015 Jun 18;31(6):901-7. Epub 2015 Feb 18.

Department of Neurosurgery, Institute of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan,

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http://link.springer.com/10.1007/s00381-015-2626-5
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http://dx.doi.org/10.1007/s00381-015-2626-5DOI Listing
June 2015

Increased interleukin-6 and high-sensitivity C-reactive protein levels in pediatric epilepsy patients with frequent, refractory generalized motor seizures.

Seizure 2015 Feb 17;25:136-40. Epub 2014 Oct 17.

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

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http://dx.doi.org/10.1016/j.seizure.2014.10.007DOI Listing
February 2015

A pediatric case of peripheral polyneuropathy with IgM anti-GM1 antibody associated with A group a beta-hemolytic Streptococcus infection.

Pediatr Neurol 2014 Sep 27;51(3):441-3. Epub 2014 Mar 27.

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.03.019DOI Listing
September 2014

A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.

Mod Rheumatol 2016 Sep 20;26(5):798-801. Epub 2014 Jun 20.

a Department of Pediatrics , Hiroshima University Graduate School of Biomedical & Health Sciences , Hiroshima , Japan.

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http://dx.doi.org/10.3109/14397595.2014.924894DOI Listing
September 2016

Prevalence of and risk factors for non-alcoholic fatty liver disease in a non-obese Japanese population, 2011-2012.

J Gastroenterol 2015 Jan 12;50(1):95-108. Epub 2014 Mar 12.

Health Care Division, Kyoto Second Red Cross Hospital, 355-5 Haruobi-cho, Kamigyo-ku, Kyoto, 602-8026, Japan,

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http://dx.doi.org/10.1007/s00535-014-0948-9DOI Listing
January 2015

A case of trisomy 18 with exacerbation of seizures triggered by administration of valproic acid.

Am J Med Genet A 2014 Jan 15;164A(1):285-6. Epub 2013 Nov 15.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36205DOI Listing
January 2014

Ictal electroencephalography and electromyography features in symptomatic infantile epileptic encephalopathy with late-onset spasms.

Neuropediatrics 2014 Feb 13;45(1):36-41. Epub 2013 Oct 13.

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

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http://dx.doi.org/10.1055/s-0033-1357479DOI Listing
February 2014