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日本就医网 2018-09-17 16:39:33发布

古贺靖敏

职称:教授
学术领域:线粒体病、儿科
荣誉资质:上原記念生命科学財団、1995年 海外留学助成ポストドクトラルフェロー受賞、米国MDA post-doc.

专?#21307;?#32461;

久留米大学病院 儿科、神经内科

专业领域

线粒体病、儿科

推进线粒体病中最常见的MELAS综合征的研究,并成功开发了L-arginine疗法。不仅限于对患者的治疗,还致力于对患者家属的发病预防及跟踪,被誉为日本线粒体疾病研究、治疗第一人,现任日本线粒体学会理事长。

医生履历

1980年久留米大学医学部 毕业

1984年久留米大学研究生院医学研究科

1984年久留米大学助手 医学部儿科研究室

1986年国立精神神经中心神经研究所

1989年哥伦比亚大学医学部神经内科 研究员

1992年哥伦比亚大学医学部神经内科 助教

1994年久留米大学 讲师

2001年久留米大学 副教授

2005年久留米大学 教授

2007年久留米大学临床试验中心 副主任

2011年久留米大学IRB委?#34987;?委员长

认证资格及所属学会

?医学博士

?日本儿科学会 专门医、代议员

?日本线粒体病学会 理事长

?日本儿童神经学会 理事

?日本先天性代谢异常学会 代议员、委员

?日本厚生劳动科学线粒体疾病研究小组 组长

获奖、著作及论文

【获奖】

1)上原記念生命科学財団、1995年 海外留学助成ポストドクトラルフェロー受賞、米国MDA post-doc.

2)David Warfield Fellowship from New York Academy of Medicine (1994年)

3)上原記念生命科学財団、2003年 研究助成研究受賞

4)ミトコンドリア機能異常に起因する?#19981;激摔堡?#33256;床症状発現の予防?治療的組成物

国内特許出願番号:特許 2002-299575 国際特許: US:10/530056

5)米国ミトコンドリア学会2008年6月 最優秀論文賞 Kelsey Wright Award受賞

6)日本ミトコンドリア学会 2008年12月 優秀論文賞(臨床研究)

7)第1回福岡県医学会研究奨励賞受賞

8)7th Asian conference of Mitochondrial Research and Medicine 2010, Dec 15-18(福岡市)主催

9)European NeuroMuscular Conference 優秀論文賞受賞 2011、July 4-9 (Napoli)

10)米国ミトコンドリア学会2014年6月 最優秀論文賞 (Corresponding) Kelsey Wright Award受賞

11)ミトコンドリア病の新規バイオマーカーGDF15

国内特許:特願2014-005391、特願2014-223500、特願2015-557853, 15/111513、国際特許PCT/JP2015/050833(WO2015/108077 A1)

【学术论文】

Publication Lists

Original Article

1) Kubota K, Yoshino M, Koga Y, Aramaki S, Yamashita F: Arginase activity in peripheral erythrocytes in developing individuals. Kurume Med J 30:103-105, 1983

2) Koga Y, Yoshino M, Yamashita F : Effects of short and medium chain length fatty acids on pyruvate oxidation by cultured human fibroblasts and rat liver mitochondria. J Inher Met Dis 7: 141-142, 1984

3) Tanaka M, Nishikimi M, Suzuki H, Ozawa T, Koga Y, Nonaka I : Partial deficiency of subunits in complex I or IV of patients with mitochondrial myopathies. Biochem Int 14: 525-530, 1987

4) Tanaka M, Nishikimi M, Suzuki H, Tada M, Ozawa T, Koga Y, Nonaka I : Deficiency of subunits of complex I or IV in mitochondrial myopathies: immunochemical and immunohistochemical study. J Inher Met Dis 10:284-288, 1987

5) Koga Y, Yoshida I, Kimura A, Yoshino M, Yamashita F, Sinniah D:Inhibition of mitochondrial functions by Margosa oil : possible implications in the pathogenesis of Reye's syndrome. Pediatr Res 22:184-187, 1987

6) Nonaka I, Koga Y, Shikura K, Kobayashi M, Sugiyama N, Okino E, Nihei K, Toji M, Segawa M:Muscle pathology in cytochrome c oxidase deficiency. Acta Neuropathol 77:152-160, 1988

7) Koga Y, Nonaka I, Kobayashi M, Tojyo M, Nihei K : Findings in muscle in complex I (NADH Coenzyme Q reductase) deficiency. Ann Neurol 24:749-756, 1988

8) Nonaka I, Koga Y, Okino E, Kikuchi A, Fujisawa K, Miyabayashi S : Defects in muscle fiber growth in fatal infantile cytochrome c oxidase deficiency. Brain Dev 10:223-230, 1988

9) Koga Y, Nonaka I, Sunohara N, Yamanaka R, Kumagai K :Variability in the activity of respiratory chain enzymes in mitochondrial myopathies. Acta Neuropathol 76: 135-141, 1988

10) Nonaka I, Koga Y, Ohtaki E, Yamamoto M : Tissue specificity in cytochrome c oxidase deficient myopathy. J Neurol Sci 92:193-203, 1989

11) Morita J, Ito Y, Yoshino M, Koga Y, Yano S, Yoshida I, Yamashita F :Persistent hyperkalaemia in Vitamin B12 unresponsive methylmalonic acidaemia. J Inhert Met Dis 12:89-93, 1989

12) Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, Servidei S, Nonaka I, Koga Y, Spiro AJ, Brownell AKW, Schmidt B, Schotland DL, Zupanc M, DeVivo DC, Schon EA, Rowland LP : Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320: 1293-1299, 1989

13) Yamamoto M, Koga Y, Ohtaki E, Nonaka I : Focal cytochrome c oxidase deficiency in various neuromuscular diseases. J Neurol Sci 91: 207-213, 1989

14) Goto Y, Koga Y, Horai S, Nonaka I : Chronic progressive external ophthalmoplegia : a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. J Neurol Sci 100:63-69, 1990

15) Koga Y, Fabrizi GM, Mita S, Arnaudo E, Lomax MI, Aqua MS, Grossman LI, Schon EA: Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase. Nucl Acids Res 18: 684, 1990.

16) Mita S, Rizzuto R, Moraes CT, Shanske S, Arnaudo E, Fabrizi GM, Koga Y, DiMauro S, Schon EA : Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucl Acids Res 18: 561-567, 1990

17) Nonaka I, Koga Y, Kikuchi A, Goto Y : Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency : muscle culture study. Acta Neuropathol 82:286-294, 1991

18) Suomalainen A, Ciafalni E, Koga Y, Peltonen L, DiMauro S, Schon EA : Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA. J Neurol Sci 111:222-226, 1992

19) Fabrizi GA, Sadlock J, Hirano M, Mita S, Koga Y, Rizzuto R, Zeviani M, Schon EA : Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. Gene 119:307-312, 1992

20) Schon EA, Koga Y, Davidson M, Moraes CT, King MP :The mitochondrial tRNALeu(UUR) mutation in MELAS : a model for pathogenesis. Biochem Biophys Acta 1101:206-209, 1992

21) Goto Y, Horai S, Matsuoka T, Koga Y, Nihei K, Kobayashi M, Nonaka I : Mitochondrial myopathy, encephalopathy, lactic acidosis,and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 42: 545-550, 1992

22) King MP, Koga Y, Davidson M, Schon EA:Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol 12: 480-490, 1992

23) Koga Y, Davidson M, Schon EA, King MP : Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS. Nucl Acids Res 21:657-662, 1993

24) Masucci JP, Davidson M, Koga Y, Schon EA, King MP: In vitro analysis of mutations causing myocionus epilepsy with ragged-red fibers in the mitochondrial tRNALys gene : two genotypes produce similar phenotypes. Mol Cell Biol 15:2872-2881, 1995

25) Koga Y, Davidson M, Schon EA, King MP : Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene. Muscle Nerve S3:119-123, 1995

26) Kaufmann P, Koga Y, Shanske S, Hirano M, DiMauro S, King MP, Schon EA: Mitochondrial DNA and RNA processing in MELAS. Ann Neurol 40:172-180, 1996

27) Soda H, Yukizane S, Yoshida I, Koga Y, Aramaki S, Koto H:A point mutation in exon 3 (His 107 to Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement. Hum Genet 97:435-437, 1996

28) Shimizu T, Matsuishi T, Yamashita Y, Koga Y, Ohtaki E, Kato H, Goto Y, Nonaka I. :Marinesco-Sjogren syndrome: can the diagnosis be made prior to cataract formation ? Muscle & Nerve 20:909-910, 1997

29) Watanabe Y, Yano S, Koga Y, Yukizane S, Nishiyori A,Yoshino M, Kato H, Ogata T, Adachi M: P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome. Hum Mutat 10:326-327, 1997

30) Koga Y, Yoshino M, Kato H:MELAS exhibits dominant negative effects on mitochondrial RNA processing.  Ann Neurol 43:835, 1998

31) Sobreira C, King MP, Davidson MM, Park H, Koga Y, Miranda AF:Long-term analysis of differentiation in human myoblasts repopulated with mitochondria harboring mtDNA mutations. Bioch Biophys Res Com 266:179-186, 1999

32) Yoshino M, Aoki K, Akeda H, Hashimoto K, Ikeda T, Inoue F, Ito M, Kawamura M, Kohno Y, Koga Y, Kuroda Y, Maesaka H, Soda H, Sugiyama N, Suzuki Y, Yano S, Yoshioka A:Management of acute metabolic decompensation in maple syrup urine disease: A multi-center study. Pediatrics International 41:132-137, 1999

33) Bruno C, Kirby DM, Koga Y, Garavaglia B, Duran G, Santorelli FM, Shield LK, Xia W, Shanske S, Goldstein JD, Iwanaga R, Akita Y, Carrara F, Davis A, Zevuani M, Thorburn DR, DiMauro S:The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy. J Pediatr 135:197-202, 1999

34) Akita Y, Koga Y, Iwanaga R, Wada N, Tsubone J, Fukuda S, Nakamura Y, Kato H:Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNALys gene. Hum Mutat 15: 382(#306: online 1-7), 2000

35) Koga Y, Koga A, Iwanaga R, Akita Y, Tubone J, Matsuishi T, Takane N, Sato Y, Kato H. :Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes. Acta Neuropathol (Berl) Feb;99(2):186-190, 2000

36) Koga Y, Akita Y, Takane N, Sato Y, Kato H.: Heterogeneous presentation in A3243G mutation in the mitochondrial tRNALeu(UUR) gene. Arch Dis Child May;82(5):407-411, 2000

37) Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M. :Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406(6798):906-910, 2000

38) Iwanaga R, Koga Y, Aramaki S, Kato S, Kato H: Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy. Acta Neuropathol (Berl) 101:179-184, 2001

39) Koga Y, Ishibashi M, Ueki I, Yatsuga S, Fukiyama R, Akita Y, Matsuishi T: Effects of L-arginine on the acute phase of strokes in three patients with MELAS. Neurology 58:827-828, 2002.

40) Koga A, Koga Y, Akita Y, Fukiyama R, Ueki I, Yatsuga S, Matsuishi T :Increased mitochondrial processing intermediates associated with three tRNALeu(UUR) gene mutations. Neuromuscular Dis 13:259-262, 2003

41) Koga Y: MELAS and L-arginine therapy. Brain Dev 26(7):480, 2004

42) Yamashita Y, Kusaga A, Koga Y, Nagamitsu S, Matsuishi T. Noonan syndrome, Moyamoya-like vascular changes and anti-phospholipid syndrome. Pediatric Neurology 2004; 31(5): 364-366.

43) Koga Y, Akita Y, Nishioka J, Yatsuga S, Povalko N, Tanabe Y, Fujimoto S, Matsuishi T: L-arginine improves the symptoms of stroke-like episodes in MELAS. Neurology 2005 Feb;64(4):710-712.

44) Tsuneoka M, Teye K, Arima N, Soejima M, Otera H, Ohashi K, Koga Y, Fujita H, Shirouzu K, Kimura H, Koda Y. A novel MYC-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma. J Biol Chem. 2005 Mar 17 20;280(20):19977-19985

45) Povalko N, Zakharova E, Rudenskaia G, Akita Y, Hirata K, Matsuishi T, Koga Y. A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy. Mitochondrion 2005 5:194-199

46) Ueki I, Koga Y. Povalko N, Akita Y, Nishioka J, Yatsuga S, Fukiyama R, Matsuishi. T. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis. Mitochondrion 2006 6:39-48

47) Koga Y, Akita Y, Nishioka J, Yatsuga S, Povalko N, Fukiyama R, Ishii M, Matsuishi T. Endothelial dysfunction in MELAS was improved by L-arginine supplementation. Neurology 2006 66(6):1766-1769, 2006.

48) Koga Y, Akita Y, Nishioka J, Yatsuga S, Povalko N,Katayama K, Matsuishi T. MELAS and L-arginine therapy. Mitochondrion 2007;7:133-139.

49) H P. Indo, M Davidson, H Yen, S Suenaga, K Tomita, T Nishii, M Higuchi, Y Koga, T Ozawa, HJ Majima. Evidence of generation by mitochondria in cells with impaired electron transport chain and mitochondrial DNA damage. Mitochondrion 2007;7:106-118.

50) Tanaka M, Nishigaki Y, Fuku N, Ibi T, Sahashi K, Koga Y.  Therapeutic potential of pyruvate for mitochondrial diseases. Mitochondrion 2007;7:399-403

51) Nishioka J, Akita Y, Yatsuga S, Katayama K, Koga Y. Inappropriate intracranial hemodynamics in the natural course of MELAS. Brain and Dev. 2008;30:100-105.

52) Hirata K, Akita Y, Povalko N, Nishioka J, Yatsuga S, Matsuishi T, Koga Y. Effect of L-arginine on synaptosomal mitochondrial function. Brain and Dev.2008;30:238-245.

53) Komaki H, Nishigaki Y, Fuku N, Murayama K, Ohtake A, Goto YI, Wakamoto H, Koga Y, Tanaka M、Pyruvate therapy on Leigh syndrome due to cytochrome c oxidase deficiency. Bioche Biophys Acta 2010;1800:313-315

54) Nishigaki Y, Ueno H, Coku J, Koga Y, Fujii T, Sahashi K, Nakano K, Yoneda M, Nonaka M, Chia-WeiLiou TL, Paquis-Flucklinger V, Harigaya Y, Ibi T, Goto YI, Hosoya H, DiMauro S, Hirano M, Tanaka M. Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. Mitochondrion 2010; 10(3): 300-8.

55) Koga Y, Povalko N, Nishioka J, Katayama K, Kakimoto N, and Matsuishi T. MELAS and L-arginine therapy –pathophysiology of stroke-like episodes-. Annals of New York Academy of Sciences 2010 Jul;1201:104-10.

56) Yasutoshi Koga, Nataliya Povalko, Koujyu Katayama, Noriko Kakimoto, Toyojiro Matsuishi, Etsuo Naito, Masashi Tanaka. . Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1? gene. Brain & Dev 2012 34; 87–91

57) Yasutoshi Koga, Nataliya Povalko, Junko Nishioka, Koujyu Katayama, Noriko Kakimoto, and Toyojiro Matsuishi . Molecular Pathology of MELAS and L-Arginine Effects. Biochem Biophys Acta General 2012;1820:608-614

58) Shuichi Yatsuga, Nataliya Povalko, Kojyu Katayama, Junko Nishioka, Noriko, Kakimoto, Toyojiro Matsuishi, Yasutoshi Koga. MELAS: A nationwide prospective cohort study of 96 patients in Japan Biochem Biophys Acta General 2012;1820:619-624

59) Yasutoshi Koga. Biochemistry of Mitochondria, Life and Intervention 2010. Biochem Biophys Acta

General 2012 1820:551-552

60) Masamichi Ikawa, Kenichiro Arakawa, Tadanori Hamano, Miwako Nagata, Yasunari Nakamoto, Masaru Kuriyama, Yasutoshi Koga, Makoto Yoneda. Evaluation of systemic redox states in patients carrying MELAS A3243G mutation in mitochondrial DNA. European Neurology 2012;67(4):232-7.

61) Shuichi Yatsuga, Yuji Hiromatsu, Shigekazu Sasaki, Hirotoshi Nakamura, Koju Katayama,

Junko Nishioka and Yasutoshi Koga. A two-day-old hyperthyroid neonate with thyroid

hormone resistance born to a mother with well-controlled Graves’ disease: a case report.

Journal of Medical Case Reports 2012, 6:246-8

62) Saikusa M, Yatsuga S, Tonan T, Koga Y.:Glycogenic hepatopathy and non-alcoholic fatty liver disease in type 1 diabetes patients. Pediatr Int. 2013 Dec;55(6):806-7. doi: 10.1111/ped.12235.

67) Fujii T, Nozaki F, Saito K, Hayashi A, Nishigaki Y, Murayama K, Tanaka M, Koga Y, Hiejima I, Kumada T. Efficacy of pyruvate therapy in patients with mitochondrial disease: A semi-quantitative clinical evaluation study. Mol Genet Metab. 2014;112(2). 133-138

68) Wei F-Y, Zhou B, Suzuki T, Miyata K, Ujihara Y, Horiguchi H, Takahashi N, Xie P, Michiue H, Fujimura A, Kaitsuka T, Matsui H, Koga Y, Mohri S, Suzuki T, Oike Y, Tomizawa K. Cdk5rap 1 mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans. Cell Metabolism  2015 May;106(5):627-34

69) Katayama K, Povalko N, Yatsuga S, Nishioka J, Kakuma T, Matsuishi T, et al. New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia. Brain & development. 2015;37(3):292-8.

70) Fujita Y, Ito M, Kojima T, Yatsuga S, Koga Y, Tanaka M. GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases. Mitochondrion. 2015;20c:34-42.

71) Yatsuga S, Fujita Y, Ishii A, Fukumoto Y, Arahata H, Kakuma T, Kojima T, Ito M, Tanaka M, Saiki R, Koga Y. Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders. Annals of neurology. 2015;78(5):814-23.

72) Katayama K, Yamashita Y, Yatsuga S, Koga Y, Matsuishi T. ADHD-like behavior in a patient with hypothalamic hamartoma. Brain Dev. 2016 Jan;38(1):145-8.

73)Inoue T, Murakami N, Ayabe T, Oto Y, Nishino I, Goto YI, Koga Y, Sakuta R. Pyruvate improved insulin secretion status in a mitochondrial diabetes mellitus patient. J Clin Endocrinol Metab. 2016 May;101(5):1924-6. doi: 10.1210/jc.2015-4293. Epub 2016 Feb 17.

74) Kitamura M, Yatsuga S, Abe T, Povalko N, Saiki R, Ushijima K, Yamashita Y, Koga Y. L-arginine intervention at hyper-acute phase protects the prolonged MRI abnormality in MELAS. J Neurol. 2016 Aug;263(8):1666-8. doi: 10.1007/s00415-016-8069-4.

75) Murakami T, Shinoto Y, Yonemitsu S, Muro S, Oki S, Koga Y, Goto Y, Kaneda D. Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes. Tohoku Journal of Experimental Medicine (TJEM) Tohoku J Exp Med. 2016 Apr;238(4):311-6. doi: 10.1620/tjem.238.311.

76) Murakami T, Ueba Y, Shinoto Y, Koga Y, Kaneda D, Hattoko T, Kato T, Yonemistu S, Muro S, Oki S. Successful Glycemic Control Decreases the Elevated Serum FGF21 Level without Affecting Normal Serum GDF15 Levels in a Patient with Mitochondrial Diabetes. Tohoku Journal of Experimental Medicine (TJEM) Tohoku J Exp Med. 2016 Jun;239(2):89-94. doi: 10.1620/tjem.239.89.

78)Nishioka J, Shima H, Fukami M, Yatsuga S, Matsumoto T, Ushijima K, Kitamura M, Koga Y. The first Japanese case of central precocious puberty with a novel MKRN3 mutation. Hum Genome Var. 2017 May 18;4:17017. doi: 10.1038/hgv.2017.17. eCollection 2017.

79) Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Review.

80) Yatsuga S, Saikusa T, Sasaki T, Ushijima K, Kitamura M, Nishioka J, Koga Y. Developmental delay and failure to thrive in a 7-month-old baby boy with spontaneous transient Graves' thyrotoxicosis: a case report. J Med Case Rep. 2016 Aug 10;10(1):219. doi: 10.1186/s13256-016-1013-5.

Case report

1) Yoshino M, Koga Y, Yamashita F:A decrease in glycin cleavage activity in the liver of a patient with dihydrolipoyl dehydrogenase deficiency. J Inher Met Dis 9:399-400, 1986

2) Koga Y, Nonaka I, Nakao M, Yoshino M, Tanaka M, Ozawa T, Nakase H, DiMauro S:Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomylopathy. J Neurol Sci 95: 63-76, 1990

3) Nozaki H, Hamano S, Ueoka Y, Horita H, Koga Y, Nonaka I: Cytochrome c oxidase deficiency with acute onset and rapid recovery. Pediatr Neurol 6:330-332, 1990

4) Yoshino M, Nishiyori A, Koga Y, Mizushima Y, Maeshiro H, Inoue T, Izumi S, Hatase T, Yakushiji M, Kato H:Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency. J Inher Metab Dis 20:711-712, 1997

5) Koga Y, Iwanaga T, Yoshida I, Yoshino M, Kaneko S, Kato H:Maple syrup urine disease: Nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip. J Inher Metab Dis 21:177-178, 1998

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