• 1
    Scriver CR, Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: ScriverCR, BeaudetAL, SlyWS, ValleD, editors. The metabolic and molecular bases of inherited disease, 8th edition. McGraw-Hill, Medical Publishing Division, New York; 2001. p 16671724.
  • 2
    Pietz J. Neurological aspects of adult phenylketonuria. Curr Opin Neurol 1998; 11: 679688.
  • 3
    Bick U, Ullrich K, Stober U, Moller H, Schuierer G, Ludolph AC, Oberwittler C, Weglage J, Wendel U. White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings. Eur J Pediatr 1993; 152: 10121020.
  • 4
    Cleary MA, Walter JH, Wraith JE, Jenkins JPR, Alani SM, Tyler K, Whittle D. Magnetic resonance imaging of the brain in phenylketonuria. Lancet 1994; 344: 8790.
  • 5
    Leuzzi V, Bianchi MC, Tosetti M, Carducci CL, Carducci CA, Antonozzi I. Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria. J Inherit Metab Dis 2000; 23: 563570.
  • 6
    van der Knaap MS, Valk J. Phenylketonuria. In: van der KnaapMS, ValkJ, editors. Magnetic resonance of myelination and myelin disorders, 3rd edition. Berlin: Springer Verlag; 2005. p 284294.
  • 7
    Dezortova M, Hajek M, Tintera J, Hejcmanova L, Sykova E. MR in phenylketonuria-related brain lesions. Acta Radiol 2001; 42: 459466.
  • 8
    Phillips MD, McGraw P, Lowe MJ, Mathews VP, Hainline BE. Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria. AJNR Am J Neuroradiol 2001; 22: 15831586.
  • 9
    Kono K, Okano Y, Nakayama K, Hase Y, Minamikawa S, Ozawa N, Yokote H, Inoue Y. Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 2005; 236: 630636.
  • 10
    Tosetti M, Leuzzi V, D'Alesio V, Montanaro D, Scarabino T. Brain abnormalities in phenylketonuria: evaluation with a 3 T MR system. In: Proceedings of the 13th Annual Meeting of the ISMRM, Miami Beach, FL, USA, 2005 (Abstract 1261).
  • 11
    Montanaro D, Tosetti M, Bianchi MC, Battini R, Leuzzi V. White matter abnormalities in phenylketonuria: qualitative evaluation of anisotropic diffusion weighted images. In: Proceedings of the 10th Annual Meeting of ISMRM, Honolulu, HI, USA, 2002 (Abstract 1286).
  • 12
    Hommes FA, Moss L. Myelin turnover in hyperphenylalaninaemia. A re-evaluation with the HPH-5 mouse. J Inherit Metab Dis 1992; 15: 243251.
  • 13
    Werring DJ, Brassat D, Droogan AG, Clark CA, Symms MR, Barker GJ, MacManus DG, Thompson AJ, Miller DH. The pathogenesis of lesions and normal-appearing white matter changes in multiple sclerosis: a serial diffusion MRI study. Brain 2000; 123: 16671676.
  • 14
    Barkovich AJ. Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol 2000; 21: 10991109.
  • 15
    MacKay A, Whittall K, Adler J, Li D, Paty D, Graeb D. In vivo visualization of myelin water in brain by magnetic resonance. Magn Reson Med 1994; 31: 673677.
  • 16
    Whittall KP, MacKay AL, Graeb DA, Nugent RA, Li DKB, Paty DW. In vivo measurement of T2 distributions and water contents in normal human brain. Magn Reson Med 1997; 37: 3447.
  • 17
    Laule C, Vavasour IM, Moore GR, Oger J, Li DK, Paty DW, MacKay AL. Water content and myelin water fraction in multiple sclerosis. A T2 relaxation study. J Neurol 2004; 251: 284293.
  • 18
    Vermathen P, Pietz J, Boesch C, Kreis R. Mapping human cerebral water compartments based on simultaneously acquired T1 and T2 data—evidence of dysmyelination in phenylketonuria. In: Proceedings of the 12th Annual Meeting of ISMRM, Kyoto, Japan, 2004 (Abstract 257).
  • 19
    MacKay A, Laule C, Vavasour I, Bjarnason T, Kolind S, Madler B. Insights into brain microstructure from the T2 distribution. Magn Reson Imaging 2006; 24: 515525.
  • 20
    Sirrs SM, Laule C, Madler B, Brief EE, Tahir SA, Bishop C, MacKay AL. Normal-appearing white matter in patients with phenylketonuria: water content, myelin water fraction, and metabolite concentrations. Radiology 2007; 242: 236243.
  • 21
    Rupp A, Kreis R, Zschocke J, Slotboom J, Boesch C, Rating D, Pietz J. Variability of blood-brain ratios of phenylalanine in “typical” patients with phenylketonuria. J Cereb Blood Flow Metab 2001; 21: 276284.
  • 22
    Guldberg P, Rey F, Zschocke J, Romano V, Francois B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Guttler F. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998; 63: 7179.
  • 23
    Pietz J, Kreis R, Schmidt H, Meyding-Lamadé UK, Rupp A, Boesch C. Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment. Radiology 1996; 201: 413420.
  • 24
    Maier SE, Gudbjartsson H, Patz S, Hsu L, Lovblad KO, Edelman RR, Warach S, Jolesz FA. Line scan diffusion imaging: characterization in healthy subjects and stroke patients. AJR Am J Roentgenol 1998; 171: 8593.
  • 25
    Pietz J, Kreis R, Rupp A, Mayatepek E, Rating D, Boesch C, Bremer HJ. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest 1999; 103: 11691178.
  • 26
    Lepage M, Tofts PS, Back SA, Jayasekera PM, Baldock C. Simple methods for the correction of T2 maps of phantoms. Magn Reson Med 2001; 46: 11231129.
  • 27
    Johnson G, Ormerod IE, Barnes D, Tofts PS, MacManus D. Accuracy and precision in the measurement of relaxation times from nuclear magnetic resonance images. Br J Radiol 1987; 60: 143153.
  • 28
    Jones C, MacKay A, Rutt B. Bi-exponential T2 decay in dairy cream phantoms. Magn Reson Imaging 1998; 16: 8385.
  • 29
    Slotboom J, Boesch C, Kreis R. Versatile frequency domain fitting using time domain models and prior knowledge. Magn Reson Med 1998; 39: 899911.
  • 30
    Armitage P, Berry G. Statistical methods in medical research, 3rd ed. Oxford, UK: Blackwell Scientific Publications; 1994.
  • 31
    Vavasour IM, Clark CM, Li DK, MacKay AL. Reproducibility and reliability of MR measurements in white matter: clinical implications. Neuroimage 2006; 32: 637642.
  • 32
    Kreis R, Fusch C, Boesch C. In vivo characterization of three water compartments in human white matter using a single voxel technique with short TE. In: Proceedings of the 11th Annual Meeting of SMRM, Berlin, Germany. 1992 (Abstract 1963).
  • 33
    Harrison R, Bronskill MJ, Henkelman RM. Magnetization transfer and T2 relaxation components in tissue. Magn Reson Med 1995; 33: 490496.
  • 34
    Does MD, Beaulieu C, Allen PS, Snyder RE. Multi-component T1 relaxation and magnetisation transfer in peripheral nerve. Magn Reson Imaging 1998; 16: 10331041.
  • 35
    Does MD, Gore JC. Compartmental study of T(1) and T(2) in rat brain and trigeminal nerve in vivo. Magn Reson Med 2002; 47: 274283.
  • 36
    Koenig SH, Brown RD, Spiller M, Lundbom N. Relaxometry of brain: why white matter appears bright in MRI. Magn Reson Med 1990; 14: 482495.
  • 37
    Lancaster JL, Andrews T, Hardies LJ, Dodd S, Fox PT. Three-pool model of white matter. J Magn Reson Imaging 2003; 17: 110.
  • 38
    Bjarnason TA, Vavasour IM, Chia CL, MacKay AL. Characterization of the NMR behavior of white matter in bovine brain. Magn Reson Med 2005; 54: 10721081.
  • 39
    Assaf Y, Basser PJ. Composite hindered and restricted model of diffusion (CHARMED) MR imaging of the human brain. Neuroimage 2005; 27: 4858.
  • 40
    Peng SS, Tseng WY, Chien YH, Hwu WL, Liu HM. Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuria: correlation with intelligence assessment. AJNR Am J Neuroradiol 2004; 25: 15691574.
  • 41
    Horsfield MA, Jones DK. Applications of diffusion-weighted and diffusion tensor MRI to white matter diseases—a review. NMR Biomed 2002; 15: 570577.
  • 42
    Engelbrecht V, Scherer A, Rassek M, Witsack HJ, Modder U. Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases. Radiology 2002; 222: 410418.
  • 43
    Parmar H, Sitoh YY, Ho L. Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings. J Comput Assist Tomogr 2004; 28: 9397.
  • 44
    Schonberger S, Schweiger B, Schwahn B, Schwarz M, Wendel U. Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab 2004; 82: 6975.
  • 45
    Takanashi J, Hirasawa K, Tada H. Reversible restricted diffusion of entire corpus callosum. J Neurol Sci 2006; 247: 101104.
  • 46
    Laule C, Tahir SA, Sirrs SM, Brief EE, Bishop C, Li DK, MacKay AL. Long T2 imaging: evidence of a new water reservoir in phenylketonuria. In: Proceedings of the 14th Annual Meeting of ISMRM; Seattle, WA, USA, 2006 (Abstract 960).
  • 47
    Zapryanova E, Sotnikov OS, Sergeeva SS, Deleva D, Filchev A, Sultanov B. Axon reactions precede demyelination in experimental models of multiple sclerosis. Neurosci Behav Physiol 2004; 34: 337-342.
  • 48
    Song SK, Yoshino J, Le TQ, Lin SJ, Sun SW, Cross AH, Armstrong RC. Demyelination increases radial diffusivity in corpus callosum of mouse brain. Neuroimage 2005; 26: 132140.
  • 49
    Gourovitch ML, Craft S, Dowton SB, Ambrose P, Sparta S. Interhemispheric transfer in children with early-treated phenylketonuria. J Clin Exp Neuropsychol 1994; 16: 393404.
  • 50
    Pfaendner NH, Reuner G, Pietz J, Jost G, Rating D, Magnotta VA, Mohr A, Kress B, Sartor K, Hahnel S. MR imaging-based volumetry in patients with early-treated phenylketonuria. AJNR Am J Neuroradiol 2005; 26: 16811685.