Cranial MR Spectroscopy of Tetrahydrobiopterin Deficiency

References

1. ↵
   Scriver CR, Kaufman S, Eisensmith RC, Woo SL. The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw Hill, Inc.;2001 :1667–1724
2. ↵
   Dhondt JL. Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey. J Pediatr 1984;104:501–508

   CrossRefPubMedWeb of Science
3. McInnes RR, Kaufman S, Warsh JJ, et al. Biopterin synthesis defect: treatment with l-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin. J Clin Invest 1984;73:458–469

   PubMedWeb of Science
4. ↵
   Shintaku H, Asada M, Sawada Y. Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency. Brain Dev 2000;22[suppl 1]:S118–S121
5. ↵
   Schmidt H, Ullrich K, Korinthenberg R, Peters PE. Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase. Pediatr Radiol 1988;19:54–56

   PubMed
6. Sugita R, Takahashi S, Ishii K, et al. Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria). J Comput Assist Tomogr 1990;5:699–703
7. Brismar J, Aqeel A, Gascon G, Ozand P. Malignant hyperphenylalaninemia: CT and MR of the brain. AJNR Am J Neuroradiol 1990;11:135–138

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8. Gudinchet F, Maeder P, Meuli RA, Deonna T, Mathieu JM. Cranial CT and MRI in malignant phenylketonuria. Pediatr Radiol 1992;22:223–224

   PubMed
9. ↵
   Pietz J, Meyding-Lamade UK, Schmidt H. Magnetic resonance imaging of the brain in adolescents with phenylketonuria and in one case of 6-pyruvoyl tetrahydropteridine synthase deficiency. Eur J Pediatr 1996;155[suppl 1]:S69–S73
10. ↵
    Cleary MA, Walter JH, Wraith JE, White F, Tyler K, Jenkins JP. Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr 1995;127:251–255

    CrossRefPubMedWeb of Science
11. ↵
    Johannik K, Van Hecke P, Francois B, et al. Localized brain proton NMR spectroscopy in young adult phenylketonuria patients. Magn Reson Med 1994;31:53–57

    CrossRefPubMedWeb of Science
12. ↵
    Pietz J, Kreis R, Schmidt H, Meyding-Lamade 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;201:413–420

    CrossRefPubMedWeb of Science
13. ↵
    Moller HE, Ullrich K, Weglage J. In vivo proton magnetic resonance spectroscopy in phenylketonuria. Eur J Pediatr 2000;159[suppl 2]:S121–S125
14. ↵
    Chien YH, Chiang SC, Huang A, et al. Treatment and outcome of Taiwanese patients with 6-pyruvoyl-tetrahydropterin synthase gene mutations. J Inherit Metab Dis 2001;24:845–853
15. ↵
    Chan JM. Chinese Version of the Wechsler Intelligence Scale for Children-Revised [in chinese]. Taipei: Chinese Behavior Science Cooperation;1979
16. ↵
    Tada K, Narisawa K, Arai N, Ogasawara Y, Ishizawa S. A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: biochemical and pathological findings. Tohoku J Exp Med 1980;132:123–131

    CrossRefPubMed
17. ↵
    Malamud N. Neuropathology of phenylketonuria. J Neuropathol Exp Neurol 1966;25:254–268

    CrossRefPubMedWeb of Science
18. ↵
    Dezortová M, Hejcmanová L, Hájek M. Decreasing choline signal: a marker of phenylketonuria? MAGMA 1996;4:181–186

    CrossRefPubMed
19. ↵
    Bonavita S, Salle FD, Tedeschi G. Proton MRS in neurological disorders. Eur J Pediatr 1999;30:125–131