新生児マススクリーニングガイド対象疾患等診療ガイドライン
11/99

9) 植田昭仁,他:NTBCを投与した後,生体肝移植を行った高チロシン血症Ⅰ型の1例.特殊ミルク情報2005;41:23■26.1) Berger R, et al.:Deficiency of fumarylacetoacetate in apatient with hereditary tyrosinemia. Clin Chim Acta1981;114:37■44.2) Russo PA, et al.:Tyrosinemia:a review. Pediatr Dev4) van Spronsen FJ, et al.:. Hereditary tyrosinemia typeⅠ:a new clinical classification with difference in prog-nosis on dietary treatment. Hepatology 1994;20:1187■1191.5) Weinberg AG, et al.:The occurrence of hepatoma in thechronic form of hereditary tyrosinemia. J Pediatr 1976;88:434■438.6) van Spronsen FJ, et al.:Hepatocellular carcinoma inhereditary tyrosinemia type 1 despite 2■(2 nitro■4■3 tri-fluoro■methylbensoyl)■1, 3■cyclohexanedione treat-ment. J Pediatr Gastroenterol Nutr 2005;40:90■93.7) De Braekeleer M, et al.:Genetic epidemiology of hered-itary tyrosinemia in Quebec and in Saguenay■Lac■St■Jean. Am J Hum Genet 1990;47:302■307.8) Nakamura K, et al.:Tyrosinemia Type Ⅰ in Japan:A Report of Five Cases. Adv Exp Med Biol 2017;959:133■138. 18) 小峰健太郎,他:高チロシン血症Ⅱ型(Richner■Hanhart Syndrome)の1例.皮の科2004;3:275■278. 19) Endo F, et al.:Four■hydroxyphenylpyruvic acid oxidasedeficiency with normal fumarylacetoacetase:a new vari-ant form of hereditary hypertyrosinemia. Pediatr Res1983;17:92■96. 20) 遠藤文夫:遺伝性高チロシン血症.小児内科2003;35:317■321. 21) de Laet C, et al.:Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis 2013;8:8. 22) Szymanska E, et al.:Tyrosinemia type Ⅲ in an asymp-tomatic girl. Mol Genet Metab Rep 2015;5:48■50. 23) Barroso F, et al.:TYROSINEMIA TYPE Ⅲ:A CASEREPORT OF SIBLINGS AND LITERATURE REVIEW. Rev Paul Pediatr 2020;38:e2018158. 24) Macsai MS, et al.:Tyrosinemia type Ⅱ:nine cases ofocular signs and symptoms. Am J Ophthalmol 200;132:522■527. 25) Nakamura K, et al.:Diagnosis and treatment of heredi-tary tyrosinemia in Japan. Pediatr Int 2015;57:37■40. 26) Imseis EM, et al.:Case of hepatocellular carcinoma in apatient with hereditary tyrosinemia in the post■newbornscreening era. World J Hepatol 2017 28;9:487■490. 27) Das AM, et al.:Diagnosing Hepatorenal Tyrosinaemia inEurope:Newborn Mass Screening Versus SelectiveScreening. Adv Exp Med Biol 2017;959:125■132. 28) McKiernan PJ, et al.:Outcome of children with heredi-tary tyrosinaemia following newborn screening. Arch Dis Child 2015;100:738■741. 29) Kienstra NS, et al.:Daily variation of NTBC and its rela-tion to succinylacetone in tyrosinemia type 1 patientscomparing a single dose to two doses a day. J InheritMetab Dis 2018;41:181■186. 30) Geppert J:Evaluation of pre■symptomatic nitisinonetreatment on long■term outcomes in Tyrosinemia type 1 patients:a systematic review. Orphanet J Rare Dis2017;12:154. 31) 箕浦秀明,他:高チロシン血症Ⅰ型治療薬ニチシノン(オーファディン®カプセル)の薬理学的特徴および臨床試験成績.日薬理誌2015;146:342■348. 32) Das AM:Clinical utility of nitisinone for the treatment ofhereditary tyrosinemia type■1(HT■1). Appl Clin Genet2017;10:43■48. 33) ThimmE. et al.:Neurocognitive outcome in patients with hypertyrosinemia type Ⅰ after long■term treatment withNTBC. J Inherit Metab Dis 2012;35:263■268. 34) Walker H, et al.:Three Cases of Hereditary Tyrosinae-3) Chinsky JM, et al.:Diagnosis and treatment of tyrosin-emia type Ⅰ:a US and Canadian consensus groupreview and recommendations. Genet Med 2017;19:1380■1395.症Ⅱ型の1例.脳と発達1993;25:558■562.酵素学的検索.臨小児医1986;34:293■298.常について.角化症研会記録1988;3:11■14.候群)の1例.角化症研会記録1989;4:71■73.症研会記録2002;16:18■20.Pathol 2001;4:212■221. 10) 伊藤道徳,他:NTBCの長期投与により良好な経過をとっているチロシン血症Ⅰ型の1例.特殊ミルク情報2005;41:27■30. 11) 加藤光広,他:脳波異常,痙攣を伴ったチロシン血 12) 村上京子,他:チロジン血症Ⅱ型の1例.皮膚臨床1991;33:1569■1572. 13) 高橋貢,他:チロジン血症Ⅱ型(Richner■Hanhart症候群)の臨床的および酵素学的研究.日小児会誌1983;87:2163■2169. 14) 土山晃,他:チロジン血症Ⅱ型の臨床的ならびに肝 15) 丸山友裕,他:チロジン血症Ⅱ型にみられた角化異 16) 西篠忍,他:チロジン血症Ⅱ型(Richner■Hanhart症 17) 南仁子,他:Richner■Hanhart syndromeの1例.角化mia Type 1:Neuropsychiatric Outcomes and BrainImaging Following Treatment with NTBC. JIMD Rep 2018;40:97■103. 35) de Andrade RB, et al.:Tyrosine inhibits creatine kinaseactivity in cerebral cortex of young rats. Metab Brain Dis2011;26:221■227. 36) Macêdo LG, et al.:Effect of acute administration of L■tyrosine on oxidative stress parameters in brain of youngrats. Neurochem Res 2013;38:2625■2630. 37) De Prá SD, et al.:L■tyrosine induces DNA damage inbrain and blood of rats. Neurochem Res 2014;39:202■207. 38) Teodorak BP, et al.:Antioxidants reverse the changes inenergy metabolism of rat brain after chronic administra-tion of L. ■tyrosine. Metab Brain Dis 2017;32:557■564. 39) DʼEufemia P, et al.:Increased nitric oxide release byneutrophils of a patient with tyrosinemia type Ⅲ. Biomed Pharmacother 2009;63:359■361. 40) Antonini R, et al.:Effects of omega■3 fatty acids supple-mentation on inflammatory parameters after chronicadministration of L■tyrosine. Metab Brain Dis 2020;35:295■303. 41) 日本肝移植研究会:肝移植症例登録報告.移植2015;51:145■159. 42) Dehghani SM, et al.:Clinical and Para Clinical Findings in the Children with Tyrosinemia Referring for LiverTransplantation. Int J Prev Med 2013;4:1380■1385. 43) Gokay S, et al.:The outcome of seven patients withhereditary tyrosinemia type 1. J Pediatr EndocrinolMetab 2016;1;29:1151■1157. 44) Cerone R, et al.:Pregnancy and tyrosinaemia type Ⅱ. JInherit Metab Dis 2002;25:317■318. 45) Rabinowitz LG, et al.:Painful keratoderma and photo-phobia:hallmarks of tyrosinemia type Ⅱ. J Pediatr1995;126:266■269.122 高チロシン血症(1型,2型,3型)13文献

元のページ  ../index.html#11

このブックを見る