小児内科　Vol.48　2016年増刊号　小児疾患診療のための病態生理　3　改訂第5版

I. 総論

P.21 掲載の参考文献

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2) Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, et al : Gene therapy of human severe combined immunodeficiency (SCID) -XI disease. Science 288 : 669-672, 2000

 

3) Ghosh S, Thrasher AJ, Gaspar HB : Gene therapy for monogenic disorders of the bone marrow. Br J Haematol, 2015 Jun. 5 doi : 10. 1111/bjh. 13520

 

4) Otsu M, Yamada M, Nakajima S, et al : Treatment outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning. J Clin Immunol 35 : 384-398, 2015

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5) Boztug K, Schmidt M, Schwarzer A, et al : Stem-cell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med 363 : 1918-1927, 2010

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6) Braun CJ. Boztug K, Paruzynski A, et al : Gene thrapy for Wiskott-Aldrich syndrome-longterm efficacy and genotoxicity. Sci Transl Med 6 : 227, 2014

 

7) Biffi A, Montini E, Lorioli L, et al : Lentiviral henlatopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 341 : 1233158, 2013

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8) Cartier N, Hacein-Bey-Abina S, Bartholonlae CC, et al : Hematopoietic stem cell gene therapy with a lentiViral vector in X-linked adrenoleukodystrophy. Science 326 : 818-823, 2009

 

9) Cavazzana-Calvo M, Payen E, Negre O, et al : Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature 467 : 318-322, 2010

 

10) Nathwani AC, Tuddenham EG, Rangarajan S, et al : Adenovirus-associated virus vector-medicated gene transfer in hemophilia B. N Engl J Med 365 : 2357-2365, 2011

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11) Bainbridge JW, Smith AJ, Barker SS, et al : Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 358 : 2231-2239, 2008

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12) Long C, McAnally JR, Shelton JM, et al : Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA. Science 345 : 1184-1188, 2014

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P.27 掲載の参考文献

1) 厚生労働省 : 希少疾病用医薬品・希少疾病川医療機器・希少疾病用再生医療等製品の指定制度の概要 http://www.mhlw.go.jp/stf/seisakunitsllite/bunya/0000068484.html (2016年6月23日アクセス)

 

2) 医薬基盤研究所 : 希少疾病用医薬品・希少疾病用医療機器の開発振興 https://www.nibiohn.go.jp/part/promote/orphan_support/use.html (2016年6月23日アクセス)

 

3) 医薬品医療機器総合機構 https://www.pmda.go.jp/ (2016年6月23日アクセス)

 

4) Orphan Drug Act ; 21 CFR Part 316-Orphan Drugs, Public Law 97-414, as amend

 

5) REGULATION (EC) No 141/20000F THE EURO-PEAN PARLIAMENT AND OF THE COUNCIL of 16 Dec 1999 on orphan medicinal products

 

6) Franco P : Orphan drug : the regulatory environment. Drug Discovery Today 18 : 163-172, 2013

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7) Genetic and Rare Disease Information Center, NIH/NCAT https://rarediseases.info.nih.gov (2016年6月23日アクセス)

 

8) 日本医療研究開発機構 http://www.amed.go.jp/ (2016年6月23日アクセス)

 

9) Gagne JJ, Thompson L, O'Keefe K, et al : Innovation research methods for studying treatments for rare disease : methodological review. BMJ 349 : g6802, 2014

 

10) 上村鋼平 : 臨床試験における被験者数再設定-方法論の概説と統計学的留意点. 計量生物学 133 : 77-99, 2012

 

P.37 掲載の参考文献

1) 文部科学省 : 研究活動における不正行為への対応等に関するガイドライン, 平成26年8月26日文部科学大臣決定 http://www.mext.go.jp/b_menu/houdou/26/08/_icsFiles/afieldfile/2014/08/26/1351568_02_1.pdf (2016年6月23日アクセス)

 

2) 厚生労働省 : 研究に関する指針について http://www.mhlw.go.jp/stf/seisakunitsuite/bunya/hok abunya/kenkyujigyou/i-kenkyu/ (2016年6月23日アクセス)

 

3) 日本学術振興会「科学の健全な発展のために」編集委員会 : 科学の健全な発展のために-誠実な科学者の心得, 丸善出版, 東京. 2015

 

4) 文部科学省・厚生労働省 : 人を対象とする医学系研究に関する倫理指針, 平成26年文部科学省・厚生労働省告示第3号 http://wwvumhhvgo.jp/file/06-Seisakujouhou-10600000-Daijinkanboukouseikagakuka/0000069410.pdf (2016年6月23日アクセス)

 

5) CONSORT : CONSORT Website http://www.consort-statement.org/ (2016年6月23日アクセス)

 

6) International Committee of Medical Journal Editors : Recommendations http://www.icmje.org/recommendations/browse/roles-and-responsibilities/defining-the-role-of-authors-and-contributors.html (2016年6月23日アクセス)

 

7) 武田裕子 : 剽窃 (Plagiarism) をめぐる英国の医学部・大学院教育. 医学教育 45 : 220-221, 2014

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8) 橋本勝美 : Journal of Epidemiologyにおける出版倫理の取り組みApproach to publication ethics in the Journal of Epidemiology. 情報管理 57 : 451-456, 2014

 

9) 松澤孝明 : わが国における研究不正公開情報に基づくマクロ分析 (2). 情報管理 56 : 222-235, 2013

 

II. 先天代謝異常

P.44 掲載の参考文献

1) Kishnani PS, Dickson PI, Muldowney L, et al : Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction. Mol Genet Metab 117 : 66-83, 2016

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2) Muenzer J, Hendriksz CJ, Fan ZE et al : A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II. Genet Med 18 : 73-81, 2016

 

3) Pineda M, Wraith JE, Mengel E, et al : Miglustat in patients with Niemann-Pick disease Type C (NPC) : a multicenter observational retrospective cohort study. Mol Genet Metab 98 : 243-249, 2009

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4) Balwani M, Burrow TA, Charrow J, et al : Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States. Mol Genet Metab 117 : 95-103, 2016

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5) Burton BK, Balwani M, Feillet E et al : A phase 3 trial of Sebelipase Alfa in lysosomal acid lipase deficiency. N Engl J Med 373 : 1010-1020, 2015

 

6) Germain DP, Giugliarti R, Hughes DA, et al : Safety and pharmacodynamics effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease : report from two phase clinical studies. Orphanet J Rare Dis 7 : 91, 2012

 

7) Zimran A, Altarescu G, Elstein D : Pilot study using ambroxol as a pharmacological chaperone type 1 Gaucher disease. Blood Cells Mol Dis 50 : 134-137, 2013

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P.51 掲載の参考文献

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2) Muntau AC, Roschinger W, Habich M, et al : Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347 : 2122-2132, 2002

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3) Kure S, Hou DC, Ohura T, et al : Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135 : 375-378, 1999

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4) 新宅治夫 : テトラヒドロビオプテリン負荷試験. 小児内科 45 : 884-887, 2013

 

5) 大浦敏博, 新宅治夫, 高柳正樹, 他 : テトラヒドロビオプテリン (BH4) 反応性高フェニルアラニン血症に対する天然型BH4製剤サプロプテリンの適正使用に関する暫定指針. 日小児会誌113 : 649-653, 2009

 

6) 北川照男, 松田一郎, 青木菊麿, 他 : フェニルケトン尿症 (高フェニルアラニン血症の一部を含む) 治療指針の第2次改定の経緯と改定勧告治療指針 (平成24年度) について. 特殊ミルク情報 48 : 82-84, 2012

 

7) Ogawa A, Kanazawa M, Takayanagi M, et al : A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of l-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels. Brain Dev 30 : 82-85, 2008

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8) 特殊ミルク共同安全開発委員会 : アミノ酸代謝異常症のために, 食事療法ガイドブック, 恩賜財団母子愛育会, 東京, 2008

 

9) Grange DK, Hillman RE, Burton BK, et al : Sapropterin dihydrochloride use in pregnant women with phenylketonuria : an interim report of the PKU MOMS sub-registry. Mol Genet Metab 112 : 9-16, 2014

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・ BioPKU : PAH欠損症およびBH4欠損症の遺伝子変異のデータベース http://www.biopku.org/ (2016年6月23日アクセス)

 

・ フェニルケトン尿症親の会連絡協議会ホームページ http://www.japan-pku.net (2016年6月23日アクセス)

 

・ 日本先天代謝異常学会診断基準策定委員会編 : 診療指針 http://jsimd.net/gicg.html (2016年6月23日アクセス)

 

P.56 掲載の参考文献

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2) Nakamura K, Matsumoto S, Mitsubuchi H, et al : Diagnosis and treatment of hereditary tyrosinemia in Japan. Pediatr Int 57 : 37-40, 2015

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6) Bartlett DC, Lloyd C, McKieman PJ, et al : Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function. J Inherit Metab Dis 37 : 745-752, 2014

 

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・ 難病情報センター : 医療従事者向け, 診断と治療指針, 疾患群別索引, 高チロシン血症 http://www.nanbyou.or.jp/entry/504 (2016年6月24日アクセス)

 

P.63 掲載の参考文献

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3) Hubmacher D, Sabatier L, Annis DS, et al : Homocysteine modifies structural and functional properties of fibronectin and interferes with the fibronectin-fibrillin-1 interaction. Biochemistry 50 : 5322-5332, 2011

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9) Huemer M, Kozich V, Rinaldo P, et al : Newborn screening for homocystinurias and methylation disorders : systematic reView and proposed guidelines. J Inherit Metab Dis 38 : 1007-1019, 2015

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14) Huemer M, Mulder-Bleile R, Burda P, et al : Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab Dis 39 : 115-124, 2016

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・ 日本先天代謝異常学会 : 先天代謝異常症の診療指針 http://jsimd.net/documents/GuidelinesInClinicalGenetics/homosutimyousyou.pdf (2016年6月24日アクセス)

 

P.66 掲載の参考文献

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P.69 掲載の参考文献

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10) Feier F, Schwartz IV, Benkert AR, et al : Living related versus deceased donor liver transplantation for maple syrup urine disease. Mol Genet Metab 117 : 336-343, 2016

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P.72 掲載の参考文献

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2) Kure S, et al : Conlprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia (glycine encephalopathy). Hum Mutat 27 : 343-352, 2006

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4) Baker PB, et al : Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3, anf the novel gene GLX5. Brain 137 : 366-379, 2014

 

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・ GeneReviews : Glycine encephalopathy http://www.ncbi.nlm.nih.gov/books/NBK1357/ (2016年6月23日アクセス)

 

P.79 掲載の参考文献

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P.83 掲載の参考文献

1) Sebastio G, Sperandeo MP, Andria G : Lysinuric protein intolerance : reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet 157C : 54-62, 2011

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3) Tringham M, Kurko J, Mykkanen J, et al : Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI). Mol Genet Metab 105 : 408-415, 2012

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7) Valinlahamed-Mitha S, Berteloot L, de Blic J, et al : Lung involvement in children with lysinuric protein intolerance. J Inherit Metab Dis 38 : 257-263, 2015

 

8) Nicolas C, Bednarek N, Pietrement C, et al : Renal involvement in a French paediatric cohort of patients with lysinuric protein intolerance. JIMD 2015 Nov 26 doi : 10. 1007/89042015509

 

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・ OMIM : LYSINURIC PROTEIN INTOLERANCE (#222700) http://www.omim.org/entry/222700 (2016年6月24日アクセス)

 

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・ 新生児タンデムマススクリーニング対象疾患の診療ガイドライン改訂, 診療の質を高めるための研究 (遺伝子解析について問い合わせ先) http://jsiem.com/ (2016年6月24日アクセス)

 

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・ 難病情報センター : 片側痙攣・片麻痺・てんかん症候群 http://www.nanbyou.or.jp/entry/4409 (2016年7月5日アクセス)

 

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・ 日本多発性硬化症協会 http://www.jmss-s.jp/ (2016年7月5日アクセス)

 

・ NPO法人MS Cabin http://www.mscabin.org/ (2016年7月5日アクセス)

 

・ 全国多発性硬化症友の会 http://www.h2.dion.ne.jp/nymsfriend/ (2016年7月5日アクセス)

 

・ MSゲートウェイ (バイエル薬品) http://www.Ms-gateway.jp/ (2016年7月5日アクセス)

 

・ アボネックス(R) インフォメーション (バイオジェン・アイデック・ジャパン) http://www.ms-supportnavi.com/med/avx/index.html (2016年7月5日アクセス)

 

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・ 特定疾患治療研究事業対象の疾患として昭和51年より, 公費対象となり研究班が組織されており, 疾患の概要や研究成果などが難病情報センターに公開されている. http://www.nanbyou.or.jp (2016年8月19日アクセス)

 

・ 遺伝子診断を中心とした疾患の詳細としてはGene Review (Hereditary Ataxia Overview) が詳しい. http://www.ncbi.nlm.nih.gov/books/NBK1138/ (2016年7月5日アクセス)

 

・ 遺伝学的検査の実施にあたっては, 遺伝医学関連学会による「遺伝学的検査に関するガイドライン」を遵守する. http://www.jsgc.jp/geneguide.html (2016年7月5日アクセス)

 

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・ National lnstitute of Mental Health : Pediatrics and Developmental Neuroscience Branch (PDNB) http://www.nimh.nih.gov/labs-at-nimh/research-areas/clinics-and-labs/pdnb/index.shtml (2016年9月13日アクセス)

 

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VI. 発達障害, 心身症, 精神疾患

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7) 星野恭子 : 睡眠教育今昔～明治から平成へ日常診療における子どもの睡眠障害. 診断と治療社, 東京, pp214-219, 2015

 

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1) II. 小児起立性調節障害診断・治療ガイドライン. 日本小児心身医学会 (編) : 小児心身医学会ガイドライン集, 改訂2版, 南江堂, 東京, pp26-85, 2015

 

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VII. 血液・腫瘍性疾患

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1) 厚生労働科学研究費補助金難治性疾患克服研究事業特発性造血障害に関する調査研究「自己免疫性溶血性 貧血診療の参照ガイド (平成25年度改訂版)」http://zoketsushogaihan.com/file/guideline_H25/5.pdf (2016年8月2日アクセス)

 

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6) 厚生労働省 : 重篤副作用疾患別対応マニュアル一覧血液 薬剤性貧血 http://www.mhlw.go.jp/topics/2006/11/dl/tp1122-1f07.pdf (2016年8月2日アクセス)

 

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2) 山城安啓 : サラセミアの基礎知識と臨床検査Medical Tecnology 43 : 1110-1117, 2015

 

3) 服部幸夫, 原野昭雄 : 本邦臨床統計集 (1) : 異常Hb血症およびサラセミア. 日本臨牀 59 (増刊7) : 437-451, 2001

 

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6) 佐藤淳, 丹田恵美子, 安藤健明, 他 : Mentzer indexを指標に検索しえた血色素異常症. 日検血会誌 7 : 10-19, 2006

 

7) Hattori Y, Yamashiro Y, Fujimoto H, et al : The elution profiles of abnormal hemoglobins in HbA1c measurement by high performance liquid chromatography and their interference with HbA1c analysis in Japan. Int Med J 13 : 83-90, 2006

 

8) 服部幸夫, 山城安啓 : 異常値となるメカニズムHbA1c検査によるHb異常症の検出と解析. 検と技 33 : 1430-1432, 2005

 

9) 服部幸夫, 山城安啓 : 異常血色素およびサラセミアの遺伝子診断-特に広範囲遺伝子欠失型の欠失断端の決定. 臨病理 51 : 550-555, 2003

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・ 日本造血細胞移植学会 : 造血細胞移植ガイドライン一覧【非会員閲覧用】, 急性骨髄性白血病 (小児) 第2版 (2012年4月改訂) http://www.jshct.com/guideline/guidelines_nm.shtml (2016年8月4日アクセス, Internet Explorerでのみ閲覧可能)

 

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VIII. 境界領域疾患

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