Publications by authors named "Kei Murayama"

100Publications

Guidelines for the diagnosis and treatment of acute encephalopathy in childhood.

Brain Dev 2020 Aug 20. Epub 2020 Aug 20.

Committee for the Integration of Guidelines, Japanese Society of Child Neurology, Tokyo, Japan; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.

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http://dx.doi.org/10.1016/j.braindev.2020.08.001DOI Listing
August 2020

Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy.

J Clin Pathol 2020 Aug 17. Epub 2020 Aug 17.

Department of Research, Charles R Drew University of Medicine and Science, Los Angeles, California, USA.

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http://dx.doi.org/10.1136/jclinpath-2020-206801DOI Listing
August 2020

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome.

Mol Genet Genomic Med 2020 Aug 4:e1427. Epub 2020 Aug 4.

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/mgg3.1427DOI Listing
August 2020

Therapeutic effect of -carbamylglutamate in CPS1 deficiency.

Mol Genet Metab Rep 2020 Sep 8;24:100622. Epub 2020 Jul 8.

Center for Medical Genetics, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba city, Chiba 266-0007, Japan.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7347628PMC
September 2020

Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.

Mol Genet Metab Rep 2020 Sep 30;24:100610. Epub 2020 May 30.

Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264074PMC
September 2020

NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.

Brain 2020 Jul;143(7):e54

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

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http://dx.doi.org/10.1093/brain/awaa130DOI Listing
July 2020

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Mol Genet Metab Rep 2020 Sep 18;24:100601. Epub 2020 May 18.

Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235638PMC
September 2020

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.

Clin Genet 2020 Aug 25;98(2):155-165. Epub 2020 May 25.

Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cge.13773DOI Listing
August 2020

Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila.

FEBS Lett 2020 Apr 15. Epub 2020 Apr 15.

Department of Biological Sciences, Graduate School of Science, Tokyo Metropolitan University, Hachioji-shi, Japan.

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http://dx.doi.org/10.1002/1873-3468.13792DOI Listing
April 2020

Delineating -associated disease: From isolated neuropathy to early onset neurodegeneration.

Neurol Genet 2020 Feb 13;6(1):e393. Epub 2020 Jan 13.

Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975175PMC
February 2020

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

[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