Kei Murayama

Kei Murayama

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Kei Murayama

Publications by authors named "Kei Murayama"

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Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C.

Brain Dev 2019 Oct 6;41(9):803-807. Epub 2019 Jun 6.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.05.006DOI Listing
October 2019

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.

Neurogenetics 2019 03 3;20(1):9-25. Epub 2019 Jan 3.

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Hongo 2-1-1, Bunkyo-ku, Tokyo, 113-8421, Japan.

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http://link.springer.com/10.1007/s10048-018-0561-9
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http://dx.doi.org/10.1007/s10048-018-0561-9DOI Listing
March 2019

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.

Int J Cardiol 2019 Mar 5;279:115-121. Epub 2019 Jan 5.

Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan; Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01675273183431
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http://dx.doi.org/10.1016/j.ijcard.2019.01.017DOI Listing
March 2019

Reply to the "Letter to the Editor" from Dr. J Finsterer and colleagues.

Neurogenetics 2019 03 21;20(1):55-56. Epub 2019 Feb 21.

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Hongo 2-1-1, Bunkyo-ku, Tokyo, 113-8421, Japan.

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http://dx.doi.org/10.1007/s10048-019-00567-4DOI Listing
March 2019

Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases.

J Hum Genet 2019 Feb 21;64(2):113-125. Epub 2018 Nov 21.

Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.

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http://dx.doi.org/10.1038/s10038-018-0528-6DOI Listing
February 2019

Successful control of maternal phenylketonuria by tetrahydrobiopterin.

Pediatr Int 2018 Oct;60(10):985-986

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1111/ped.13678DOI Listing
October 2018

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.

Hum Genome Var 2018 4;5:25. Epub 2018 Sep 4.

1Division of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi Japan.

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http://dx.doi.org/10.1038/s41439-018-0026-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123423PMC
September 2018

Response to "infantile-onset deafness in m.7445A>G carriers may be multicausal".

Int J Pediatr Otorhinolaryngol 2018 08 14;111:194. Epub 2018 Jun 14.

Center for Medical Genetics and Division of Metabolism, Chiba Children's Hospital, 579-1 Hetacho, Midori-ku, Chiba, Chiba, 266-0007, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2018.06.023DOI Listing
August 2018

High-level heteroplasmy for the m.7445A>G mitochondrial DNA mutation can cause progressive sensorineural hearing loss in infancy.

Int J Pediatr Otorhinolaryngol 2018 May 27;108:125-131. Epub 2018 Feb 27.

Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan; Medical Genetics Center, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2018.02.037DOI Listing
May 2018

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with severe systemic symptoms: Pathology and biochemistry.

Pediatr Int 2018 Mar 26;60(3):300-302. Epub 2018 Feb 26.

Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.

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http://doi.wiley.com/10.1111/ped.13472
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http://dx.doi.org/10.1111/ped.13472DOI Listing
March 2018

Japanese Leigh syndrome case treated with EPI-743.

Brain Dev 2018 Feb 12;40(2):145-149. Epub 2017 Sep 12.

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Jichi Medical University, Tochigi, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.08.005DOI Listing
February 2018

Barth Syndrome: Different Approaches to Diagnosis.

J Pediatr 2018 02 15;193:256-260. Epub 2017 Dec 15.

Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.09.075DOI Listing
February 2018

HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.

Hum Mutat 2017 12 21;38(12):1796-1800. Epub 2017 Sep 21.

Laboratory of Statistical Genetics, Rockefeller University, New York.

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http://dx.doi.org/10.1002/humu.23298DOI Listing
December 2017

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.

J Hum Genet 2017 Apr 26;62(5):539-547. Epub 2017 Jan 26.

Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.

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http://dx.doi.org/10.1038/jhg.2016.165DOI Listing
April 2017

Mitochondrial respiratory chain complex I deficiency causes intractable gastrointestinal symptoms.

Pediatr Int 2016 Dec 6;58(12):1337-1340. Epub 2016 Nov 6.

Division of Perinatology and Pediatrics, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.

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http://dx.doi.org/10.1111/ped.13080DOI Listing
December 2016

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.

J Hum Genet 2016 Nov 30;61(11):959-963. Epub 2016 Jun 30.

Laboratory of Statistical Genetics, Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1038/jhg.2016.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411490PMC
November 2016

Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy.

Int J Cardiol 2016 Oct 29;221:446-9. Epub 2016 Jun 29.

Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, 350-1241, Japan; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, 350-1241, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.06.287DOI Listing
October 2016

Clinical and genetic features of lysinuric protein intolerance in Japan.

Pediatr Int 2016 Oct 8;58(10):979-983. Epub 2016 Jun 8.

Department of Pediatrics, Akita University Graduate School of Medicine, Akita City, Akita, Japan.

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http://dx.doi.org/10.1111/ped.12946DOI Listing
October 2016

MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.

Mol Genet Metab Rep 2016 Sep 4;8:74-6. Epub 2016 Aug 4.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1016/j.ymgmr.2016.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976613PMC
September 2016

Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report.

Hepatol Res 2016 Mar 18;46(5):477-82. Epub 2015 Sep 18.

Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Yonago, Japan.

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http://dx.doi.org/10.1111/hepr.12574DOI Listing
March 2016

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.

Int J Cardiol 2016 Mar 7;207:203-5. Epub 2016 Jan 7.

Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Japan; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.01.026DOI Listing
March 2016

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Eur J Pediatr 2015 Dec 16;174(12):1593-602. Epub 2015 Jun 16.

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama, 232-8555, Japan.

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http://dx.doi.org/10.1007/s00431-015-2576-7DOI Listing
December 2015

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Am J Hum Genet 2015 Nov 29;97(5):761-8. Epub 2015 Oct 29.

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Science for Life Laboratory and Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667130PMC
November 2015

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.

J Hum Genet 2015 Sep 28;60(9):509-13. Epub 2015 May 28.

Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1038/jhg.2015.57DOI Listing
September 2015

Fever of unknown origin as the initial manifestation of valproate-induced Fanconi syndrome.

Pediatr Neurol 2014 Dec 21;51(6):846-9. Epub 2014 Sep 21.

Faculty of Medicine, Department of Pediatrics, Saitama Medical University, Saitama, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.09.007DOI Listing
December 2014

Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.

Brain Dev 2014 Sep 7;36(8):730-3. Epub 2013 Oct 7.

Department of Pediatrics, Saitama Medical University Hospital, Japan.

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http://dx.doi.org/10.1016/j.braindev.2013.09.005DOI Listing
September 2014

Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation study.

Mol Genet Metab 2014 Jun 2;112(2):133-8. Epub 2014 May 2.

Department of Pediatrics, Shiga Medical Center for Children, 5-7-30 Moriyama, Shiga 524-0022, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2014.04.008DOI Listing
June 2014

New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.

Ann Clin Transl Neurol 2014 May 28;1(5):361-9. Epub 2014 Apr 28.

Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University Hidaka, Japan ; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University Hidaka, Japan.

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http://dx.doi.org/10.1002/acn3.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184687PMC
May 2014

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.

Pediatr Int 2014 Apr 6;56(2):180-7. Epub 2014 Mar 6.

Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan; Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1111/ped.12249DOI Listing
April 2014

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

Mol Genet Metab Rep 2014 1;1:133-138. Epub 2014 Apr 1.

Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan; Department of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan.

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http://dx.doi.org/10.1016/j.ymgmr.2014.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121298PMC
April 2014

Case of an infant with hepatic cirrhosis caused by mitochondrial respiratory chain disorder.

Pediatr Int 2013 Aug;55(4):e103-6

Department of Pediatrics, Fussa Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1111/ped.12098DOI Listing
August 2013

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

Brain Dev 2012 Nov 10;34(10):861-5. Epub 2012 Mar 10.

Division of Neurology, Kanagawa Children's Medical Center, Minami-ku, Yokohama 232-8555, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604120003
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http://dx.doi.org/10.1016/j.braindev.2012.02.007DOI Listing
November 2012

Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: diagnosis of mitochondrial respiratory chain disorders.

Mol Genet Metab 2012 Aug 11;106(4):474-7. Epub 2012 May 11.

Department of Legal Medicine, Osaka University Graduate School of Medicine, 2-2 Yamada-Oka, Suita, Osaka 565-0871, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921200191
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http://dx.doi.org/10.1016/j.ymgme.2012.05.002DOI Listing
August 2012

Pyruvate therapy for mitochondrial DNA depletion syndrome.

Biochim Biophys Acta 2012 May 11;1820(5):632-6. Epub 2011 Aug 11.

Department of Pediatrics, Shiga Medical Center for Children, Moriyama-City, Shiga, Japan.

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http://dx.doi.org/10.1016/j.bbagen.2011.08.006DOI Listing
May 2012

Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy.

Brain Dev 2012 Feb 26;34(2):115-7. Epub 2011 Mar 26.

Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2011.03.002DOI Listing
February 2012

Fatal case of mitochondrial DNA depletion with severe asphyxia in a newborn.

Pediatr Int 2011 Apr;53(2):240-2

Department of Pediatrics, Showa University School of Medicine, Department of Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1442-200X.2010.03183.xDOI Listing
April 2011

[Acute encephalopathy in inherited metabolic diseases].

Nihon Rinsho 2011 Mar;69(3):477-82

Department of Metabolism, Chiba Children's Hospital.

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March 2011

Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.

Biochim Biophys Acta 2010 Mar 17;1800(3):313-5. Epub 2009 Jul 17.

Department of Pediatric Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1016/j.bbagen.2009.07.008DOI Listing
March 2010

Children's toxicology from bench to bed--Liver Injury (4): Mitochondrial respiratory chain disorder and liver disease in children.

J Toxicol Sci 2009 ;34 Suppl 2:SP237-43

Department of Metabolism, Chiba Children's Hospital, Japan.

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http://dx.doi.org/10.2131/jts.34.sp237DOI Listing
September 2009

Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency.

Eur J Pediatr 2009 Mar 17;168(3):297-302. Epub 2008 Jun 17.

Department of Metabolism, Chiba Children's Hospital, 579-1, Henda-cho, Midori-ku, Chiba, 266-0007, Japan.

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http://dx.doi.org/10.1007/s00431-008-0753-7DOI Listing
March 2009

Epidemiology of community-acquired pneumonia in children.

Pediatrics 2005 Feb;115(2):517; author reply 517

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http://dx.doi.org/10.1542/peds.2004-2055DOI Listing
February 2005