文献リスト

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24）McCombe PA, McLaughlin DB, Chalk JB, et al. Spasticity and white matter abnormalities in adult phenylketonuria. J Neurol Neurosurg Psychiatry. 1992; 55: 359-61

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27）Waisbren SE, Levy HL. Agoraphobia in phenylketonuria. J Inherit Metab Dis. 1991; 14: 755-64

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29）Guttler F, Lou H. Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behaviour and neuropsychological function. J Inherit Metab Dis. 1986; 9 Suppl 2: 169-77

30）Charney DS, Heninger GR. Abnormal regulation of noradrenergic function in panic disorders. Effects of clonidine in healthy subjects and patients with agoraphobia and panic disorder. Arch Gen Psychiatry. 1986; 43: 1042-54

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32）岡野　善．成人フェニルケトン尿症の血中フェニルアラニン値のコントロールはいくらであるべきか．特殊ミルク情報（先天性代謝異常症の治療）．2011; 11: 20-4

33）Sitta A, Vanzin CS, Biancini GB, et al. Evidence that L-carnitine and selenium supplementation reduces oxidative stress in phenylketonuric patients. Cell Mol Neurobiol. 2011; 31: 429-36

34）Robinson M, White FJ, Cleary MA, et al. Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. J Pediatr. 2000; 136: 545-7

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36）Allen JR, Humphries IR, Waters DL, et al. Decreased bone mineral density in children with phenylketonuria. Am J Clin Nutr. 1994; 59: 419-22

37）Nagasaka H, Tsukahara H, Takatani T, et al. Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening. J Bone Miner Metab. 2011; 29: 737-43

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49）Knox WE. An evaluation of the treatment of phenylketonuria with diets low in phenylalanine. Pediatrics. 1960; 26: 1-11

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51）Holtzman NA, Welcher DW, Mellits ED. Termination of restricted diet in children with phenylketonuria: a randomized controlled study. N Engl J Med. 1975; 293: 1121-4

52）National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics. 2001; 108: 972-82

53）芳野　信，渡邊　順，岡田　純．成人フェニルケトン尿症患者の医療的・社会的アウトカム．特殊ミルク情報（先天性代謝異常症の治療）．2011; 11: 6-7

54）呉　繁．アミノ酸代謝異常症　フェニルケトン尿症．小児内科．2012; 44: 1619-22

55）Kure S, Hou DC, Ohura T, et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr. 1999; 135: 375-8

56）Shintaku H, Kure S, Ohura T, et al. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Pediatr Res. 2004; 55: 425-30

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