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Volumn 16, Issue 1, 2006, Pages 87-116

MR spectroscopy of metabolic disorders

Author keywords

[No Author keywords available]

Indexed keywords

ALEXANDER DISEASE; AMINO ACID METABOLISM; ARTICLE; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; GENETIC CORRELATION; HUMAN; INBORN ERROR OF METABOLISM; METABOLIC DISORDER; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 33644927546     PISSN: 10525149     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nic.2005.10.004     Document Type: Review
Times cited : (51)

References (171)
  • 2
    • 33644904955 scopus 로고    scopus 로고
    • Metabolic and neurodegenerative disease in children
    • R.E. Latchaw J. Kucharczyk M.E. Moseley Elsevier Mosby Philadelphia
    • W.S. Ball, B.V. Jones, and K.M. Cecil Metabolic and neurodegenerative disease in children R.E. Latchaw J. Kucharczyk M.E. Moseley Diagnostic and therapeutic imaging of the nervous system 2005 Elsevier Mosby Philadelphia 1283 1320
    • (2005) Diagnostic and Therapeutic Imaging of the Nervous System , pp. 1283-1320
    • Ball, W.S.1    Jones, B.V.2    Cecil, K.M.3
  • 3
    • 0031725315 scopus 로고    scopus 로고
    • Total brain N-acetylaspartate concentration in normal, age-grouped females: Quantitation with non-echo proton NMR spectroscopy
    • O. Gonen, A.K. Viswanathan, and I. Catalaa Total brain N-acetylaspartate concentration in normal, age-grouped females: quantitation with non-echo proton NMR spectroscopy Magn Reson Med 40 5 1998 684 689
    • (1998) Magn Reson Med , vol.40 , Issue.5 , pp. 684-689
    • Gonen, O.1    Viswanathan, A.K.2    Catalaa, I.3
  • 4
    • 0037225665 scopus 로고    scopus 로고
    • Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism
    • S.H. Moolenaar, U.F. Engelke, and R.A. Wevers Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism Ann Clin Biochem 40 Pt 1 2003 16 24
    • (2003) Ann Clin Biochem , vol.40 , Issue.PART 1 , pp. 16-24
    • Moolenaar, S.H.1    Engelke, U.F.2    Wevers, R.A.3
  • 5
    • 0034991324 scopus 로고    scopus 로고
    • In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism
    • S.H. Moolenaar, M.S. van der Knaap, and U.F. Engelke In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism NMR Biomed 14 3 2001 167 176
    • (2001) NMR Biomed , vol.14 , Issue.3 , pp. 167-176
    • Moolenaar, S.H.1    Van Der Knaap, M.S.2    Engelke, U.F.3
  • 6
    • 0033549025 scopus 로고    scopus 로고
    • A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease
    • T. Varho, M. Komu, and P. Sonninen A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease Neurology 52 8 1999 1668 1672
    • (1999) Neurology , vol.52 , Issue.8 , pp. 1668-1672
    • Varho, T.1    Komu, M.2    Sonninen, P.3
  • 7
    • 0032705808 scopus 로고    scopus 로고
    • Proton MR spectroscopy of Sjogren-Larsson's syndrome
    • T. Mano, J. Ono, and T. Kaminaga Proton MR spectroscopy of Sjogren-Larsson's syndrome AJNR Am J Neuroradiol 20 9 1999 1671 1673
    • (1999) AJNR Am J Neuroradiol , vol.20 , Issue.9 , pp. 1671-1673
    • Mano, T.1    Ono, J.2    Kaminaga, T.3
  • 8
    • 0035206419 scopus 로고    scopus 로고
    • Clinical and biochemical effects of zileuton in patients with the Sjogren-Larsson syndrome
    • M.A. Willemsen, M.A. Lutt, and P.M. Steijlen Clinical and biochemical effects of zileuton in patients with the Sjogren-Larsson syndrome Eur J Pediatr 160 12 2001 711 717
    • (2001) Eur J Pediatr , vol.160 , Issue.12 , pp. 711-717
    • Willemsen, M.A.1    Lutt, M.A.2    Steijlen, P.M.3
  • 9
    • 0035017914 scopus 로고    scopus 로고
    • Proton magnetic resonance spectroscopy of Sjogren-Larsson syndrome heterozygotes
    • T. Kaminaga, T. Mano, and J. Ono Proton magnetic resonance spectroscopy of Sjogren-Larsson syndrome heterozygotes Magn Reson Med 45 6 2001 1112 1115
    • (2001) Magn Reson Med , vol.45 , Issue.6 , pp. 1112-1115
    • Kaminaga, T.1    Mano, T.2    Ono, J.3
  • 10
    • 12144291521 scopus 로고    scopus 로고
    • Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease
    • S.L. Vanhanen, J. Puranen, and T. Autti Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease Neuropediatrics 35 1 2004 27 35
    • (2004) Neuropediatrics , vol.35 , Issue.1 , pp. 27-35
    • Vanhanen, S.L.1    Puranen, J.2    Autti, T.3
  • 11
    • 4444228137 scopus 로고    scopus 로고
    • High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3
    • B. Sitter, T. Autti, and J. Tyynela High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3 J Neurosci Res 77 5 2004 762 769
    • (2004) J Neurosci Res , vol.77 , Issue.5 , pp. 762-769
    • Sitter, B.1    Autti, T.2    Tyynela, J.3
  • 12
    • 0035188015 scopus 로고    scopus 로고
    • Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis
    • N. De Stefano, M.T. Dotti, and M. Mortilla Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis Brain 124 Pt 1 2001 121 131
    • (2001) Brain , vol.124 , Issue.PART 1 , pp. 121-131
    • De Stefano, N.1    Dotti, M.T.2    Mortilla, M.3
  • 13
    • 0028362580 scopus 로고
    • Magnetic resonance spectroscopy in Niemann-Pick disease type C: Correlation with diagnosis and clinical response to cholestyramine and lovastatin
    • M. Sylvain, D.L. Arnold, and C.R. Scriver Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin Pediatr Neurol 10 3 1994 228 232
    • (1994) Pediatr Neurol , vol.10 , Issue.3 , pp. 228-232
    • Sylvain, M.1    Arnold, D.L.2    Scriver, C.R.3
  • 14
    • 0031813260 scopus 로고    scopus 로고
    • Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease
    • G. Tedeschi, S. Bonavita, and N.W. Barton Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease J Neurol Neurosurg Psychiatry 65 1 1998 72 79
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , Issue.1 , pp. 72-79
    • Tedeschi, G.1    Bonavita, S.2    Barton, N.W.3
  • 15
    • 0035090147 scopus 로고    scopus 로고
    • Evaluation of accumulated mucopolysaccharides in the brain of patients with mucopolysaccharidoses by (1)H-magnetic resonance spectroscopy before and after bone marrow transplantation
    • Y. Takahashi, K. Sukegawa, and M. Aoki Evaluation of accumulated mucopolysaccharides in the brain of patients with mucopolysaccharidoses by (1)H-magnetic resonance spectroscopy before and after bone marrow transplantation Pediatr Res 49 3 2001 349 355
    • (2001) Pediatr Res , vol.49 , Issue.3 , pp. 349-355
    • Takahashi, Y.1    Sukegawa, K.2    Aoki, M.3
  • 16
    • 0027508313 scopus 로고
    • Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo
    • B. Kruse, F. Hanefeld, and H.J. Christen Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo J Neurol 241 2 1993 68 74
    • (1993) J Neurol , vol.241 , Issue.2 , pp. 68-74
    • Kruse, B.1    Hanefeld, F.2    Christen, H.J.3
  • 17
    • 12244304858 scopus 로고    scopus 로고
    • Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease
    • K. Brockmann, P. Dechent, and B. Wilken Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease Neurology 60 5 2003 819 825
    • (2003) Neurology , vol.60 , Issue.5 , pp. 819-825
    • Brockmann, K.1    Dechent, P.2    Wilken, B.3
  • 18
    • 0034902041 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe's disease
    • M.K. Zarifi, A.A. Tzika, and L.G. Astrakas Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe's disease J Child Neurol 16 7 2001 522 526
    • (2001) J Child Neurol , vol.16 , Issue.7 , pp. 522-526
    • Zarifi, M.K.1    Tzika, A.A.2    Astrakas, L.G.3
  • 19
    • 0038444330 scopus 로고    scopus 로고
    • Infantile Sandhoff's disease: Multivoxel magnetic resonance spectroscopy findings
    • A. Alkan, R. Kutlu, and C. Yakinci Infantile Sandhoff's disease: multivoxel magnetic resonance spectroscopy findings J Child Neurol 18 6 2003 425 428
    • (2003) J Child Neurol , vol.18 , Issue.6 , pp. 425-428
    • Alkan, A.1    Kutlu, R.2    Yakinci, C.3
  • 20
    • 0032231360 scopus 로고    scopus 로고
    • MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis
    • D. Seitz, W. Grodd, and A. Schwab MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis AJNR Am J Neuroradiol 19 7 1998 1373 1377
    • (1998) AJNR Am J Neuroradiol , vol.19 , Issue.7 , pp. 1373-1377
    • Seitz, D.1    Grodd, W.2    Schwab, A.3
  • 21
    • 0029804637 scopus 로고    scopus 로고
    • Localized proton magnetic resonance spectroscopy of cerebral metabolic disturbances in children with neuronal ceroid lipofuscinosis
    • K. Brockmann, P.J. Pouwels, and H.J. Christen Localized proton magnetic resonance spectroscopy of cerebral metabolic disturbances in children with neuronal ceroid lipofuscinosis Neuropediatrics 27 5 1996 242 248
    • (1996) Neuropediatrics , vol.27 , Issue.5 , pp. 242-248
    • Brockmann, K.1    Pouwels, P.J.2    Christen, H.J.3
  • 22
    • 0027499542 scopus 로고
    • MRI and localized proton MRS in early infantile form of neuronal ceroid-lipofuscinosis
    • S. Confort-Gouny, B. Chabrol, and J. Vion-Dury MRI and localized proton MRS in early infantile form of neuronal ceroid-lipofuscinosis Pediatr Neurol 9 1 1993 57 60
    • (1993) Pediatr Neurol , vol.9 , Issue.1 , pp. 57-60
    • Confort-Gouny, S.1    Chabrol, B.2    Vion-Dury, J.3
  • 23
    • 0033555573 scopus 로고    scopus 로고
    • Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis
    • L. Lauronen, P.B. Munroe, and I. Jarvela Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis Neurology 52 2 1999 360 365
    • (1999) Neurology , vol.52 , Issue.2 , pp. 360-365
    • Lauronen, L.1    Munroe, P.B.2    Jarvela, I.3
  • 25
    • 0142094033 scopus 로고    scopus 로고
    • Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses
    • M. Hochuli, K. Wuthrich, and B. Steinmann Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses NMR Biomed 16 4 2003 224 236
    • (2003) NMR Biomed , vol.16 , Issue.4 , pp. 224-236
    • Hochuli, M.1    Wuthrich, K.2    Steinmann, B.3
  • 26
    • 1642451713 scopus 로고    scopus 로고
    • N-acetylated metabolites in urine: Proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism
    • U.F. Engelke, M.L. Liebrand-van Sambeek, and J.G. de Jong N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism Clin Chem 50 1 2004 58 66
    • (2004) Clin Chem , vol.50 , Issue.1 , pp. 58-66
    • Engelke, U.F.1    Liebrand-Van Sambeek, M.L.2    De Jong, J.G.3
  • 27
    • 0026636935 scopus 로고
    • Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders
    • H. Bruhn, B. Kruse, and G.C. Korenke Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders J Comput Assist Tomogr 16 3 1992 335 344
    • (1992) J Comput Assist Tomogr , vol.16 , Issue.3 , pp. 335-344
    • Bruhn, H.1    Kruse, B.2    Korenke, G.C.3
  • 28
    • 0036130407 scopus 로고    scopus 로고
    • MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata
    • A. Viola, S. Confort-Gouny, and J.P. Ranjeva MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata AJNR Am J Neuroradiol 23 3 2002 480 483
    • (2002) AJNR Am J Neuroradiol , vol.23 , Issue.3 , pp. 480-483
    • Viola, A.1    Confort-Gouny, S.2    Ranjeva, J.P.3
  • 29
    • 0037219940 scopus 로고    scopus 로고
    • Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings
    • A. Alkan, R. Kutlu, and C. Yakinci Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings Magn Reson Imaging 21 1 2003 77 80
    • (2003) Magn Reson Imaging , vol.21 , Issue.1 , pp. 77-80
    • Alkan, A.1    Kutlu, R.2    Yakinci, C.3
  • 30
    • 2042469484 scopus 로고    scopus 로고
    • A comparative study of myo-inositol quantification using LC model at 1.5 T and 3.0 T with 3 D 1H proton spectroscopic imaging of the human brain
    • R. Srinivasan, D. Vigneron, and N. Sailasuta A comparative study of myo-inositol quantification using LC model at 1.5 T and 3.0 T with 3 D 1H proton spectroscopic imaging of the human brain Magn Reson Imaging 22 4 2004 523 528
    • (2004) Magn Reson Imaging , vol.22 , Issue.4 , pp. 523-528
    • Srinivasan, R.1    Vigneron, D.2    Sailasuta, N.3
  • 31
    • 13244289781 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy: A new guide for the therapy of adrenoleukodystrophy
    • H.W. Moser, and P.B. Barker Magnetic resonance spectroscopy: a new guide for the therapy of adrenoleukodystrophy Neurology 64 3 2005 406 407
    • (2005) Neurology , vol.64 , Issue.3 , pp. 406-407
    • Moser, H.W.1    Barker, P.B.2
  • 32
    • 13244265477 scopus 로고    scopus 로고
    • Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients
    • G. Oz, I. Tkac, and L.R. Charnas Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients Neurology 64 3 2005 434 441
    • (2005) Neurology , vol.64 , Issue.3 , pp. 434-441
    • Oz, G.1    Tkac, I.2    Charnas, L.R.3
  • 33
    • 10744220226 scopus 로고    scopus 로고
    • Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation
    • B. Wilken, P. Dechent, and K. Brockmann Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation Neuropediatrics 34 5 2003 237 246
    • (2003) Neuropediatrics , vol.34 , Issue.5 , pp. 237-246
    • Wilken, B.1    Dechent, P.2    Brockmann, K.3
  • 34
    • 0036787352 scopus 로고    scopus 로고
    • Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: Initial experience
    • F.S. Eichler, R. Itoh, and P.B. Barker Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience Radiology 225 1 2002 245 252
    • (2002) Radiology , vol.225 , Issue.1 , pp. 245-252
    • Eichler, F.S.1    Itoh, R.2    Barker, P.B.3
  • 35
    • 0037177080 scopus 로고    scopus 로고
    • Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy
    • F.S. Eichler, P.B. Barker, and C. Cox Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy Neurology 58 6 2002 901 907
    • (2002) Neurology , vol.58 , Issue.6 , pp. 901-907
    • Eichler, F.S.1    Barker, P.B.2    Cox, C.3
  • 36
    • 0033856768 scopus 로고    scopus 로고
    • MR spectroscopic imaging of normal-appearing white matter in adrenoleukodystrophy
    • M. Izquierdo, C. Adamsbaum, and A. Benosman MR spectroscopic imaging of normal-appearing white matter in adrenoleukodystrophy Pediatr Radiol 30 9 2000 621 629
    • (2000) Pediatr Radiol , vol.30 , Issue.9 , pp. 621-629
    • Izquierdo, M.1    Adamsbaum, C.2    Benosman, A.3
  • 37
    • 0033065215 scopus 로고    scopus 로고
    • Brain metabolic impairment in non-cerebral and cerebral forms of X-linked adrenoleukodystrophy by proton MRS: Identification of metabolic patterns by discriminant analysis
    • A.M. Salvan, S. Confort-Gouny, and B. Chabrol Brain metabolic impairment in non-cerebral and cerebral forms of X-linked adrenoleukodystrophy by proton MRS: identification of metabolic patterns by discriminant analysis Magn Reson Med 41 6 1999 1119 1126
    • (1999) Magn Reson Med , vol.41 , Issue.6 , pp. 1119-1126
    • Salvan, A.M.1    Confort-Gouny, S.2    Chabrol, B.3
  • 38
    • 0031672073 scopus 로고    scopus 로고
    • Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy
    • P.J. Pouwels, B. Kruse, and G.C. Korenke Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy Neuropediatrics 29 5 1998 254 264
    • (1998) Neuropediatrics , vol.29 , Issue.5 , pp. 254-264
    • Pouwels, P.J.1    Kruse, B.2    Korenke, G.C.3
  • 39
    • 0031545914 scopus 로고    scopus 로고
    • Proton MR spectroscopy and neuropsychological testing in adrenoleukodystrophy
    • V. Rajanayagam, M. Balthazor, and E.G. Shapiro Proton MR spectroscopy and neuropsychological testing in adrenoleukodystrophy AJNR Am J Neuroradiol 18 10 1997 1909 1914
    • (1997) AJNR Am J Neuroradiol , vol.18 , Issue.10 , pp. 1909-1914
    • Rajanayagam, V.1    Balthazor, M.2    Shapiro, E.G.3
  • 40
    • 0030913121 scopus 로고    scopus 로고
    • Localized proton magnetic resonance spectroscopy in patients with adult adrenoleukodystrophy. Increase of choline compounds in normal appearing white matter
    • A. Tourbah, J.L. Stievenart, and M.T. Iba-Zizen Localized proton magnetic resonance spectroscopy in patients with adult adrenoleukodystrophy. Increase of choline compounds in normal appearing white matter Arch Neurol 54 5 1997 586 592
    • (1997) Arch Neurol , vol.54 , Issue.5 , pp. 586-592
    • Tourbah, A.1    Stievenart, J.L.2    Iba-Zizen, M.T.3
  • 41
    • 0030249684 scopus 로고    scopus 로고
    • Arrested cerebral adrenoleukodystrophy: A clinical and proton magnetic resonance spectroscopy study in three patients
    • G.C. Korenke, P.J. Pouwels, and J. Frahm Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients Pediatr Neurol 15 2 1996 103 107
    • (1996) Pediatr Neurol , vol.15 , Issue.2 , pp. 103-107
    • Korenke, G.C.1    Pouwels, P.J.2    Frahm, J.3
  • 42
    • 0029951941 scopus 로고    scopus 로고
    • Proton MR spectroscopy of childhood adrenoleukodystrophy
    • V. Rajanayagam, J. Grad, and W. Krivit Proton MR spectroscopy of childhood adrenoleukodystrophy AJNR Am J Neuroradiol 17 6 1996 1013 1024
    • (1996) AJNR Am J Neuroradiol , vol.17 , Issue.6 , pp. 1013-1024
    • Rajanayagam, V.1    Grad, J.2    Krivit, W.3
  • 43
    • 0028820648 scopus 로고
    • Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy
    • S. Confort-Gouny, J. Vion-Dury, and B. Chabrol Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy Neuroradiology 37 7 1995 568 575
    • (1995) Neuroradiology , vol.37 , Issue.7 , pp. 568-575
    • Confort-Gouny, S.1    Vion-Dury, J.2    Chabrol, B.3
  • 44
    • 0028018237 scopus 로고
    • Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy
    • B. Kruse, P.B. Barker, and P.C. van Zijl Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy Ann Neurol 36 4 1994 595 608
    • (1994) Ann Neurol , vol.36 , Issue.4 , pp. 595-608
    • Kruse, B.1    Barker, P.B.2    Van Zijl, P.C.3
  • 45
    • 0027427766 scopus 로고
    • Childhood adrenoleukodystrophy: Assessment with proton MR spectroscopy
    • A.A. Tzika, W.S. Ball Jr, and D.B. Vigneron Childhood adrenoleukodystrophy: assessment with proton MR spectroscopy Radiology 189 2 1993 467 480
    • (1993) Radiology , vol.189 , Issue.2 , pp. 467-480
    • Tzika, A.A.1    Ball Jr., W.S.2    Vigneron, D.B.3
  • 46
    • 0345686508 scopus 로고    scopus 로고
    • Proton MR spectroscopy of mitochondrial diseases: Analysis of brain metabolic abnormalities and their possible diagnostic relevance
    • M.C. Bianchi, M. Tosetti, and R. Battini Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance AJNR Am J Neuroradiol 24 10 2003 1958 1966
    • (2003) AJNR Am J Neuroradiol , vol.24 , Issue.10 , pp. 1958-1966
    • Bianchi, M.C.1    Tosetti, M.2    Battini, R.3
  • 47
    • 0027328582 scopus 로고
    • Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency
    • I. Krageloh-Mann, W. Grodd, and M. Schoning Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency Dev Med Child Neurol 35 9 1993 769 776
    • (1993) Dev Med Child Neurol , vol.35 , Issue.9 , pp. 769-776
    • Krageloh-Mann, I.1    Grodd, W.2    Schoning, M.3
  • 48
    • 0025966992 scopus 로고
    • Regional variation in brain lactate in Leigh syndrome by localized 1H magnetic resonance spectroscopy
    • J.A. Detre, Z.Y. Wang, and A.R. Bogdan Regional variation in brain lactate in Leigh syndrome by localized 1H magnetic resonance spectroscopy Ann Neurol 29 2 1991 218 221
    • (1991) Ann Neurol , vol.29 , Issue.2 , pp. 218-221
    • Detre, J.A.1    Wang, Z.Y.2    Bogdan, A.R.3
  • 49
    • 0028245704 scopus 로고
    • Clinical diversity of pyruvate dehydrogenase deficiency
    • J.H. Cross, A. Connelly, and D.G. Gadian Clinical diversity of pyruvate dehydrogenase deficiency Pediatr Neurol 10 4 1994 276 283
    • (1994) Pediatr Neurol , vol.10 , Issue.4 , pp. 276-283
    • Cross, J.H.1    Connelly, A.2    Gadian, D.G.3
  • 50
    • 0027938052 scopus 로고
    • Cerebral dysgenesis and lactic acidemia: An MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency
    • M.I. Shevell, P.M. Matthews, and C.R. Scriver Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency Pediatr Neurol 11 3 1994 224 229
    • (1994) Pediatr Neurol , vol.11 , Issue.3 , pp. 224-229
    • Shevell, M.I.1    Matthews, P.M.2    Scriver, C.R.3
  • 51
    • 0028136140 scopus 로고
    • Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency
    • B. Kruse, F. Hanefeld, and U. Holzbach Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency Dev Med Child Neurol 36 9 1994 839 843
    • (1994) Dev Med Child Neurol , vol.36 , Issue.9 , pp. 839-843
    • Kruse, B.1    Hanefeld, F.2    Holzbach, U.3
  • 52
    • 0042974298 scopus 로고    scopus 로고
    • In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency
    • D.J. Zand, E.M. Simon, and S.B. Pulitzer In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency AJNR Am J Neuroradiol 24 7 2003 1471 1474
    • (2003) AJNR Am J Neuroradiol , vol.24 , Issue.7 , pp. 1471-1474
    • Zand, D.J.1    Simon, E.M.2    Pulitzer, S.B.3
  • 53
    • 0032985467 scopus 로고    scopus 로고
    • Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency
    • M.E. Rubio-Gozalbo, A. Heerschap, and J.M. Trijbels Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency Magn Reson Imaging 17 6 1999 939 944
    • (1999) Magn Reson Imaging , vol.17 , Issue.6 , pp. 939-944
    • Rubio-Gozalbo, M.E.1    Heerschap, A.2    Trijbels, J.M.3
  • 54
    • 0031441642 scopus 로고    scopus 로고
    • Clinical and radiologic improvements in mitochondrial encephalomyelopathy following sodium dichloroacetate therapy
    • S. Kimura, N. Ohtuki, and A. Nezu Clinical and radiologic improvements in mitochondrial encephalomyelopathy following sodium dichloroacetate therapy Brain Dev 19 8 1997 535 540
    • (1997) Brain Dev , vol.19 , Issue.8 , pp. 535-540
    • Kimura, S.1    Ohtuki, N.2    Nezu, A.3
  • 55
    • 0030047534 scopus 로고    scopus 로고
    • Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy
    • M. Harada, M. Tanouchi, and K. Arai Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy Magn Reson Imaging 14 1 1996 129 133
    • (1996) Magn Reson Imaging , vol.14 , Issue.1 , pp. 129-133
    • Harada, M.1    Tanouchi, M.2    Arai, K.3
  • 56
    • 0030998153 scopus 로고    scopus 로고
    • Dichloroacetate treatment in Leigh syndrome caused by mitochondrial DNA mutation
    • J. Takanashi, K. Sugita, and Y. Tanabe Dichloroacetate treatment in Leigh syndrome caused by mitochondrial DNA mutation J Neurol Sci 145 1 1997 83 86
    • (1997) J Neurol Sci , vol.145 , Issue.1 , pp. 83-86
    • Takanashi, J.1    Sugita, K.2    Tanabe, Y.3
  • 57
    • 0036347518 scopus 로고    scopus 로고
    • Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathy
    • N. Barisic, G. Bernert, and O. Ipsiroglu Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathy Neuropediatrics 33 3 2002 157 161
    • (2002) Neuropediatrics , vol.33 , Issue.3 , pp. 157-161
    • Barisic, N.1    Bernert, G.2    Ipsiroglu, O.3
  • 58
    • 0036216510 scopus 로고    scopus 로고
    • Application of NMR spectroscopy to monitoring MELAS treatment: A case report
    • H.E. Moller, D. Wiedermann, and G. Kurlemann Application of NMR spectroscopy to monitoring MELAS treatment: a case report Muscle Nerve 25 4 2002 593 600
    • (2002) Muscle Nerve , vol.25 , Issue.4 , pp. 593-600
    • Moller, H.E.1    Wiedermann, D.2    Kurlemann, G.3
  • 59
    • 0035035212 scopus 로고    scopus 로고
    • Reversible brain dysfunction in MELAS, MEG, and (1)H MRS analysis
    • K. Kamada, F. Takeuchi, and K. Houkin Reversible brain dysfunction in MELAS, MEG, and (1)H MRS analysis J Neurol Neurosurg Psychiatry 70 5 2001 675 678
    • (2001) J Neurol Neurosurg Psychiatry , vol.70 , Issue.5 , pp. 675-678
    • Kamada, K.1    Takeuchi, F.2    Houkin, K.3
  • 60
    • 0035259363 scopus 로고    scopus 로고
    • Diffusion-weighted image and MR spectroscopic analysis of a case of MELAS with repeated attacks
    • H.S. Kim, D.I. Kim, and B.I. Lee Diffusion-weighted image and MR spectroscopic analysis of a case of MELAS with repeated attacks Yonsei Med J 42 1 2001 128 133
    • (2001) Yonsei Med J , vol.42 , Issue.1 , pp. 128-133
    • Kim, H.S.1    Kim, D.I.2    Lee, B.I.3
  • 61
    • 0033950567 scopus 로고    scopus 로고
    • Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree
    • F. Dubeau, N. De Stefano, and B.G. Zifkin Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree Ann Neurol 47 2 2000 179 185
    • (2000) Ann Neurol , vol.47 , Issue.2 , pp. 179-185
    • Dubeau, F.1    De Stefano, N.2    Zifkin, B.G.3
  • 62
    • 0032724863 scopus 로고    scopus 로고
    • Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS
    • E. Wilichowski, P.J. Pouwels, and J. Frahm Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS Neuropediatrics 30 5 1999 256 263
    • (1999) Neuropediatrics , vol.30 , Issue.5 , pp. 256-263
    • Wilichowski, E.1    Pouwels, P.J.2    Frahm, J.3
  • 63
    • 0031750421 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy: Use in monitoring MELAS treatment
    • S.G. Pavlakis, P.B. Kingsley, and G.P. Kaplan Magnetic resonance spectroscopy: use in monitoring MELAS treatment Arch Neurol 55 6 1998 849 852
    • (1998) Arch Neurol , vol.55 , Issue.6 , pp. 849-852
    • Pavlakis, S.G.1    Kingsley, P.B.2    Kaplan, G.P.3
  • 64
    • 0031425608 scopus 로고    scopus 로고
    • Applications of magnetic resonance spectroscopy to diagnosis and monitoring of mitochondrial disease
    • P.M. Matthews, and T. Taivassalo Applications of magnetic resonance spectroscopy to diagnosis and monitoring of mitochondrial disease Ital J Neurol Sci 18 6 1997 341 351
    • (1997) Ital J Neurol Sci , vol.18 , Issue.6 , pp. 341-351
    • Matthews, P.M.1    Taivassalo, T.2
  • 65
    • 0029938221 scopus 로고    scopus 로고
    • MELAS: Clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy
    • J.M. Clark, M.P. Marks, and E. Adalsteinsson MELAS: clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy Neurology 46 1 1996 223 227
    • (1996) Neurology , vol.46 , Issue.1 , pp. 223-227
    • Clark, J.M.1    Marks, M.P.2    Adalsteinsson, E.3
  • 66
    • 0028792005 scopus 로고
    • Reversible decreases in N-acetylaspartate after acute brain injury
    • N. De Stefano, P.M. Matthews, and D.L. Arnold Reversible decreases in N-acetylaspartate after acute brain injury Magn Reson Med 34 5 1995 721 727
    • (1995) Magn Reson Med , vol.34 , Issue.5 , pp. 721-727
    • De Stefano, N.1    Matthews, P.M.2    Arnold, D.L.3
  • 67
    • 0028817051 scopus 로고
    • MELAS syndrome: Imaging and proton MR spectroscopic findings
    • M. Castillo, L. Kwock, and C. Green MELAS syndrome: imaging and proton MR spectroscopic findings AJNR Am J Neuroradiol 16 2 1995 233 239
    • (1995) AJNR Am J Neuroradiol , vol.16 , Issue.2 , pp. 233-239
    • Castillo, M.1    Kwock, L.2    Green, C.3
  • 68
    • 0027722281 scopus 로고
    • Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies
    • P.M. Mathews, F. Andermann, and K. Silver Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies Neurology 43 12 1993 2484 2490
    • (1993) Neurology , vol.43 , Issue.12 , pp. 2484-2490
    • Mathews, P.M.1    Andermann, F.2    Silver, K.3
  • 69
    • 0027228506 scopus 로고
    • Mitochondrial disorders: Analysis of their clinical and imaging characteristics
    • A.J. Barkovich, W.V. Good, and T.K. Koch Mitochondrial disorders: analysis of their clinical and imaging characteristics AJNR Am J Neuroradiol 14 5 1993 1119 1137
    • (1993) AJNR Am J Neuroradiol , vol.14 , Issue.5 , pp. 1119-1137
    • Barkovich, A.J.1    Good, W.V.2    Koch, T.K.3
  • 70
    • 0026454497 scopus 로고
    • 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin
    • 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin Neurology 42 11 1992 2147 2152
    • (1992) Neurology , vol.42 , Issue.11 , pp. 2147-2152
    • Penn, A.M.1    Lee, J.W.2    Thuillier, P.3
  • 71
    • 11144355448 scopus 로고    scopus 로고
    • Cerebral lactic acidosis correlates with neurological impairment in MELAS
    • P. Kaufmann, D.C. Shungu, and M.C. Sano Cerebral lactic acidosis correlates with neurological impairment in MELAS Neurology 62 8 2004 1297 1302
    • (2004) Neurology , vol.62 , Issue.8 , pp. 1297-1302
    • Kaufmann, P.1    Shungu, D.C.2    Sano, M.C.3
  • 72
    • 27144547046 scopus 로고    scopus 로고
    • Brain MRI and proton MRS findings in infants and children with respiratory chain defects
    • A. Dinopoulos, K.M. Cecil, and M.B. Schapiro Brain MRI and proton MRS findings in infants and children with respiratory chain defects Neuropediatrics 36 5 2005 290 301
    • (2005) Neuropediatrics , vol.36 , Issue.5 , pp. 290-301
    • Dinopoulos, A.1    Cecil, K.M.2    Schapiro, M.B.3
  • 73
    • 0032134032 scopus 로고    scopus 로고
    • In vivo lactate editing with simultaneous detection of choline, creatine, NAA, and lipid singlets at 1.5 T using PRESS excitation with applications to the study of brain and head and neck tumors
    • J. Star-Lack, D. Spielman, and E. Adalsteinsson In vivo lactate editing with simultaneous detection of choline, creatine, NAA, and lipid singlets at 1.5 T using PRESS excitation with applications to the study of brain and head and neck tumors J Magn Reson 133 2 1998 243 254
    • (1998) J Magn Reson , vol.133 , Issue.2 , pp. 243-254
    • Star-Lack, J.1    Spielman, D.2    Adalsteinsson, E.3
  • 74
    • 0346665526 scopus 로고    scopus 로고
    • Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease
    • K. Brockmann, P. Dechent, and M. Meins Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease J Neurol 250 3 2003 300 306
    • (2003) J Neurol , vol.250 , Issue.3 , pp. 300-306
    • Brockmann, K.1    Dechent, P.2    Meins, M.3
  • 75
    • 0036771658 scopus 로고    scopus 로고
    • 1H-MR spectroscopy in a case of juvenile Alexander disease
    • 1H-MR spectroscopy in a case of juvenile Alexander disease Brain Dev 24 7 2002 723 726
    • (2002) Brain Dev , vol.24 , Issue.7 , pp. 723-726
    • Imamura, A.1    Orii, K.E.2    Mizuno, S.3
  • 76
    • 0031891256 scopus 로고    scopus 로고
    • Adolescent case of Alexander disease: MR imaging and MR spectroscopy
    • J. Takanashi, K. Sugita, and Y. Tanabe Adolescent case of Alexander disease: MR imaging and MR spectroscopy Pediatr Neurol 18 1 1998 67 70
    • (1998) Pediatr Neurol , vol.18 , Issue.1 , pp. 67-70
    • Takanashi, J.1    Sugita, K.2    Tanabe, Y.3
  • 77
    • 0037430523 scopus 로고    scopus 로고
    • 13C NMR spectra of N-acetylaspartylglutamate and its detection in urine from patients with Canavan disease
    • 13C NMR spectra of N-acetylaspartylglutamate and its detection in urine from patients with Canavan disease J Pharm Biomed Anal 31 3 2003 455 463
    • (2003) J Pharm Biomed Anal , vol.31 , Issue.3 , pp. 455-463
    • Krawczyk, H.1    Gradowska, W.2
  • 78
    • 0037143294 scopus 로고    scopus 로고
    • Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain
    • C. Janson, S. McPhee, and L. Bilaniuk Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain Hum Gene Ther 13 11 2002 1391 1412
    • (2002) Hum Gene Ther , vol.13 , Issue.11 , pp. 1391-1412
    • Janson, C.1    McPhee, S.2    Bilaniuk, L.3
  • 80
    • 0034915929 scopus 로고    scopus 로고
    • Canavan disease: A review of recent developments
    • N. Gordon Canavan disease: a review of recent developments Eur J Paediatr Neurol 5 2 2001 65 69
    • (2001) Eur J Paediatr Neurol , vol.5 , Issue.2 , pp. 65-69
    • Gordon, N.1
  • 81
    • 0035089253 scopus 로고    scopus 로고
    • Direct determination of the N-acetyl-L-aspartate synthesis rate in the human brain by (13)C MRS and [1-(13)C]glucose infusion
    • A. Moreno, B.D. Ross, and S. Bluml Direct determination of the N-acetyl-L-aspartate synthesis rate in the human brain by (13)C MRS and [1-(13)C]glucose infusion J Neurochem 77 1 2001 347 350
    • (2001) J Neurochem , vol.77 , Issue.1 , pp. 347-350
    • Moreno, A.1    Ross, B.D.2    Bluml, S.3
  • 82
    • 0035065635 scopus 로고    scopus 로고
    • 1-(13)C glucose magnetic resonance spectroscopy of pediatric and adult brain disorders
    • S. Bluml, A. Moreno, and J.H. Hwang 1-(13)C glucose magnetic resonance spectroscopy of pediatric and adult brain disorders NMR Biomed 14 1 2001 19 32
    • (2001) NMR Biomed , vol.14 , Issue.1 , pp. 19-32
    • Bluml, S.1    Moreno, A.2    Hwang, J.H.3
  • 83
    • 0034182887 scopus 로고    scopus 로고
    • Knock-out mouse for Canavan disease: A model for gene transfer to the central nervous system
    • R. Matalon, P.L. Rady, and K.A. Platt Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system J Gene Med 2 3 2000 165 175
    • (2000) J Gene Med , vol.2 , Issue.3 , pp. 165-175
    • Matalon, R.1    Rady, P.L.2    Platt, K.A.3
  • 84
    • 0032177212 scopus 로고    scopus 로고
    • Use of localized proton nuclear magnetic resonance spectroscopy in Canavan's disease
    • N. Aydinli, M. Caliskan, and M. Calay Use of localized proton nuclear magnetic resonance spectroscopy in Canavan's disease Turk J Pediatr 40 4 1998 549 557
    • (1998) Turk J Pediatr , vol.40 , Issue.4 , pp. 549-557
    • Aydinli, N.1    Caliskan, M.2    Calay, M.3
  • 85
    • 0033069999 scopus 로고    scopus 로고
    • 13C MRS at 1.5 T
    • 13C MRS at 1.5 T J Magn Reson 136 2 1999 219 225
    • (1999) J Magn Reson , vol.136 , Issue.2 , pp. 219-225
    • Bluml, S.1
  • 86
    • 0032231711 scopus 로고    scopus 로고
    • Imaging studies in a unique familial dysmyelinating disorder
    • K.W. Gripp, R.A. Zimmerman, and Z.J. Wang Imaging studies in a unique familial dysmyelinating disorder AJNR Am J Neuroradiol 19 7 1998 1368 1372
    • (1998) AJNR Am J Neuroradiol , vol.19 , Issue.7 , pp. 1368-1372
    • Gripp, K.W.1    Zimmerman, R.A.2    Wang, Z.J.3
  • 87
    • 0030280604 scopus 로고    scopus 로고
    • Quantitative measurements with localized 1H MR spectroscopy in children with Canavan's disease
    • H.J. Wittsack, H. Kugel, and B. Roth Quantitative measurements with localized 1H MR spectroscopy in children with Canavan's disease J Magn Reson Imaging 6 6 1996 889 893
    • (1996) J Magn Reson Imaging , vol.6 , Issue.6 , pp. 889-893
    • Wittsack, H.J.1    Kugel, H.2    Roth, B.3
  • 88
    • 0028886232 scopus 로고
    • [Magnetic resonance tomography and localized proton spectroscopy in 2 siblings with Canavan's disease]
    • V. Engelbrecht, M. Rassek, and J. Gartner [Magnetic resonance tomography and localized proton spectroscopy in 2 siblings with Canavan's disease] Rofo Fortschr Geb Rontgenstr Neuen Bildgeb Verfahr 163 3 1995 238 244
    • (1995) Rofo Fortschr Geb Rontgenstr Neuen Bildgeb Verfahr , vol.163 , Issue.3 , pp. 238-244
    • Engelbrecht, V.1    Rassek, M.2    Gartner, J.3
  • 89
    • 0028934924 scopus 로고
    • Standardized method for high-resolution 1H-NMR of cerebrospinal fluid
    • R.A. Wevers, U. Engelke, and U. Wendel Standardized method for high-resolution 1H-NMR of cerebrospinal fluid Clin Chem 41 5 1995 744 751
    • (1995) Clin Chem , vol.41 , Issue.5 , pp. 744-751
    • Wevers, R.A.1    Engelke, U.2    Wendel, U.3
  • 90
    • 0027316819 scopus 로고
    • Magnetic resonance imaging in juvenile Canavan disease
    • P.B. Toft, R. Geiss-Holtorff, and M.O. Rolland Magnetic resonance imaging in juvenile Canavan disease Eur J Pediatr 152 9 1993 750 753
    • (1993) Eur J Pediatr , vol.152 , Issue.9 , pp. 750-753
    • Toft, P.B.1    Geiss-Holtorff, R.2    Rolland, M.O.3
  • 91
    • 0026094047 scopus 로고
    • Metabolic and destructive brain disorders in children: Findings with localized proton MR spectroscopy
    • W. Grodd, I. Krageloh-Mann, and U. Klose Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy Radiology 181 1 1991 173 181
    • (1991) Radiology , vol.181 , Issue.1 , pp. 173-181
    • Grodd, W.1    Krageloh-Mann, I.2    Klose, U.3
  • 92
    • 0037307897 scopus 로고    scopus 로고
    • A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate
    • M.S. van der Knaap, P. van der Voorn, and F. Barkhof A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate Ann Neurol 53 2 2003 252 258
    • (2003) Ann Neurol , vol.53 , Issue.2 , pp. 252-258
    • Van Der Knaap, M.S.1    Van Der Voorn, P.2    Barkhof, F.3
  • 93
    • 0030975392 scopus 로고    scopus 로고
    • A new leukoencephalopathy with vanishing white matter
    • M.S. van der Knaap, P.G. Barth, and F.J. Gabreels A new leukoencephalopathy with vanishing white matter Neurology 48 4 1997 845 855
    • (1997) Neurology , vol.48 , Issue.4 , pp. 845-855
    • Van Der Knaap, M.S.1    Barth, P.G.2    Gabreels, F.J.3
  • 94
    • 0031721955 scopus 로고    scopus 로고
    • Phenotypic variation in leukoencephalopathy with vanishing white matter
    • M.S. van der Knaap, W. Kamphorst, and P.G. Barth Phenotypic variation in leukoencephalopathy with vanishing white matter Neurology 51 2 1998 540 547
    • (1998) Neurology , vol.51 , Issue.2 , pp. 540-547
    • Van Der Knaap, M.S.1    Kamphorst, W.2    Barth, P.G.3
  • 95
    • 0032732146 scopus 로고    scopus 로고
    • Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter
    • M.S. van der Knaap, R.A. Wevers, and S. Kure Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter J Child Neurol 14 11 1999 728 731
    • (1999) J Child Neurol , vol.14 , Issue.11 , pp. 728-731
    • Van Der Knaap, M.S.1    Wevers, R.A.2    Kure, S.3
  • 96
    • 0036793880 scopus 로고    scopus 로고
    • New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum
    • M.S. van der Knaap, S. Naidu, and P.J. Pouwels New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum AJNR Am J Neuroradiol 23 9 2002 1466 1474
    • (2002) AJNR Am J Neuroradiol , vol.23 , Issue.9 , pp. 1466-1474
    • Van Der Knaap, M.S.1    Naidu, S.2    Pouwels, P.J.3
  • 97
    • 0042233990 scopus 로고    scopus 로고
    • Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype
    • B. Plecko, S. Stockler-Ipsiroglu, and S. Gruber Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype Neuropediatrics 34 3 2003 127 136
    • (2003) Neuropediatrics , vol.34 , Issue.3 , pp. 127-136
    • Plecko, B.1    Stockler-Ipsiroglu, S.2    Gruber, S.3
  • 98
    • 0032731029 scopus 로고    scopus 로고
    • Leukoencephalopathy associated with a disturbance in the metabolism of polyols
    • M.S. van der Knaap, R.A. Wevers, and E.A. Struys Leukoencephalopathy associated with a disturbance in the metabolism of polyols Ann Neurol 46 6 1999 925 928
    • (1999) Ann Neurol , vol.46 , Issue.6 , pp. 925-928
    • Van Der Knaap, M.S.1    Wevers, R.A.2    Struys, E.A.3
  • 99
    • 0028806807 scopus 로고
    • Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis
    • M.S. van der Knaap, J. Valk, and P.G. Barth Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis Neuroradiology 37 8 1995 679 686
    • (1995) Neuroradiology , vol.37 , Issue.8 , pp. 679-686
    • Van Der Knaap, M.S.1    Valk, J.2    Barth, P.G.3
  • 100
    • 0028962204 scopus 로고
    • Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children
    • M.S. van der Knaap, P.G. Barth, and H. Stroink Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children Ann Neurol 37 3 1995 324 334
    • (1995) Ann Neurol , vol.37 , Issue.3 , pp. 324-334
    • Van Der Knaap, M.S.1    Barth, P.G.2    Stroink, H.3
  • 101
    • 0347384249 scopus 로고    scopus 로고
    • Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria
    • H.E. Moller, J. Weglage, and U. Bick Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria Pediatrics 112 6 Pt 2 2003 1580 1583
    • (2003) Pediatrics , vol.112 , Issue.6 PART 2 , pp. 1580-1583
    • Moller, H.E.1    Weglage, J.2    Bick, U.3
  • 102
    • 0348014925 scopus 로고    scopus 로고
    • Brain phenylalanine concentrations in phenylketonuria: Research and treatment of adults
    • R.A. Moats, K.D. Moseley, and R. Koch Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults Pediatrics 112 6 Pt 2 2003 1575 1579
    • (2003) Pediatrics , vol.112 , Issue.6 PART 2 , pp. 1575-1579
    • Moats, R.A.1    Moseley, K.D.2    Koch, R.3
  • 103
    • 0344394559 scopus 로고    scopus 로고
    • Future role of large neutral amino acids in transport of phenylalanine into the brain
    • R. Matalon, S. Surendran, and K.M. Matalon Future role of large neutral amino acids in transport of phenylalanine into the brain Pediatrics 112 6 Pt 2 2003 1570 1574
    • (2003) Pediatrics , vol.112 , Issue.6 PART 2 , pp. 1570-1574
    • Matalon, R.1    Surendran, S.2    Matalon, K.M.3
  • 105
    • 12244308540 scopus 로고    scopus 로고
    • Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria
    • J. Weglage, D. Wiedermann, and J. Denecke Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria J Inherit Metab Dis 25 6 2002 431 436
    • (2002) J Inherit Metab Dis , vol.25 , Issue.6 , pp. 431-436
    • Weglage, J.1    Wiedermann, D.2    Denecke, J.3
  • 106
    • 0036744719 scopus 로고    scopus 로고
    • Phenylketonuria in adulthood: A collaborative study
    • R. Koch, B. Burton, and G. Hoganson Phenylketonuria in adulthood: a collaborative study J Inherit Metab Dis 25 5 2002 333 346
    • (2002) J Inherit Metab Dis , vol.25 , Issue.5 , pp. 333-346
    • Koch, R.1    Burton, B.2    Hoganson, G.3
  • 107
    • 0036083972 scopus 로고    scopus 로고
    • Cranial MR spectroscopy of tetrahydrobiopterin deficiency
    • Y.H. Chien, S.F. Peng, and T.R. Wang Cranial MR spectroscopy of tetrahydrobiopterin deficiency AJNR Am J Neuroradiol 23 6 2002 1055 1058
    • (2002) AJNR Am J Neuroradiol , vol.23 , Issue.6 , pp. 1055-1058
    • Chien, Y.H.1    Peng, S.F.2    Wang, T.R.3
  • 108
    • 0034790495 scopus 로고    scopus 로고
    • Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria
    • J. Weglage, D. Wiedermann, and J. Denecke Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria Ann Neurol 50 4 2001 463 467
    • (2001) Ann Neurol , vol.50 , Issue.4 , pp. 463-467
    • Weglage, J.1    Wiedermann, D.2    Denecke, J.3
  • 109
    • 0347138015 scopus 로고    scopus 로고
    • MR in phenylketonuria-related brain lesions
    • M. Dezortova, M. Hajek, and J. Tintera MR in phenylketonuria-related brain lesions Acta Radiol 42 5 2001 459 466
    • (2001) Acta Radiol , vol.42 , Issue.5 , pp. 459-466
    • Dezortova, M.1    Hajek, M.2    Tintera, J.3
  • 110
    • 0035092621 scopus 로고    scopus 로고
    • Variability of blood-brain ratios of phenylalanine in typical patients with phenylketonuria
    • A. Rupp, R. Kreis, and J. Zschocke Variability of blood-brain ratios of phenylalanine in typical patients with phenylketonuria J Cereb Blood Flow Metab 21 3 2001 276 284
    • (2001) J Cereb Blood Flow Metab , vol.21 , Issue.3 , pp. 276-284
    • Rupp, A.1    Kreis, R.2    Zschocke, J.3
  • 111
    • 0035073726 scopus 로고    scopus 로고
    • Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia
    • J. Weglage, M. Pietsch, and R. Feldmann Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia Pediatr Res 49 4 2001 532 536
    • (2001) Pediatr Res , vol.49 , Issue.4 , pp. 532-536
    • Weglage, J.1    Pietsch, M.2    Feldmann, R.3
  • 112
    • 0033830959 scopus 로고    scopus 로고
    • Comments on in vivo proton magnetic resonance spectroscopy in phenylketonuria
    • R. Kreis Comments on in vivo proton magnetic resonance spectroscopy in phenylketonuria Eur J Pediatr 159 Suppl 2 2000 S126 S128
    • (2000) Eur J Pediatr , vol.159 , Issue.SUPPL. 2
    • Kreis, R.1
  • 113
    • 0033753597 scopus 로고    scopus 로고
    • Blood-brain phenylalanine relationships in persons with phenylketonuria
    • R. Koch, R. Moats, and F. Guttler Blood-brain phenylalanine relationships in persons with phenylketonuria Pediatrics 106 5 2000 1093 1096
    • (2000) Pediatrics , vol.106 , Issue.5 , pp. 1093-1096
    • Koch, R.1    Moats, R.2    Guttler, F.3
  • 114
    • 0033834319 scopus 로고    scopus 로고
    • Final intelligence in late treated patients with phenylketonuria
    • F.K. Trefz, S. Cipcic-Schmidt, and R. Koch Final intelligence in late treated patients with phenylketonuria Eur J Pediatr 159 Suppl 2 2000 S145 S148
    • (2000) Eur J Pediatr , vol.159 , Issue.SUPPL. 2
    • Trefz, F.K.1    Cipcic-Schmidt, S.2    Koch, R.3
  • 115
    • 0033831356 scopus 로고    scopus 로고
    • In vivo proton magnetic resonance spectroscopy in phenylketonuria
    • H.E. Moller, K. Ullrich, and J. Weglage In vivo proton magnetic resonance spectroscopy in phenylketonuria Eur J Pediatr 159 Suppl 2 2000 S121 S125
    • (2000) Eur J Pediatr , vol.159 , Issue.SUPPL. 2
    • Moller, H.E.1    Ullrich, K.2    Weglage, J.3
  • 116
    • 0033826920 scopus 로고    scopus 로고
    • Adult care in phenylketonuria and hyperphenylalaninaemia: The relevance of neurological abnormalities
    • D.P. Brenton, and J. Pietz Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities Eur J Pediatr 159 Suppl 2 2000 S114 S120
    • (2000) Eur J Pediatr , vol.159 , Issue.SUPPL. 2
    • Brenton, D.P.1    Pietz, J.2
  • 117
    • 0033806349 scopus 로고    scopus 로고
    • Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria
    • V. Leuzzi, M.C. Bianchi, and M. Tosetti Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria J Inherit Metab Dis 23 6 2000 563 570
    • (2000) J Inherit Metab Dis , vol.23 , Issue.6 , pp. 563-570
    • Leuzzi, V.1    Bianchi, M.C.2    Tosetti, M.3
  • 118
    • 0033560647 scopus 로고    scopus 로고
    • Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria
    • J. Pietz, R. Kreis, and A. Rupp Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria J Clin Invest 103 8 1999 1169 1178
    • (1999) J Clin Invest , vol.103 , Issue.8 , pp. 1169-1178
    • Pietz, J.1    Kreis, R.2    Rupp, A.3
  • 119
    • 0344765524 scopus 로고    scopus 로고
    • Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria
    • H.E. Moller, J. Weglage, and D. Wiedermann Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria J Cereb Blood Flow Metab 18 11 1998 1184 1191
    • (1998) J Cereb Blood Flow Metab , vol.18 , Issue.11 , pp. 1184-1191
    • Moller, H.E.1    Weglage, J.2    Wiedermann, D.3
  • 120
    • 0031975526 scopus 로고    scopus 로고
    • In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations
    • J. Weglage, H.E. Moller, and D. Wiedermann In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations J Inherit Metab Dis 21 1 1998 81 82
    • (1998) J Inherit Metab Dis , vol.21 , Issue.1 , pp. 81-82
    • Weglage, J.1    Moller, H.E.2    Wiedermann, D.3
  • 121
    • 0031578881 scopus 로고    scopus 로고
    • Kinetics of phenylalanine transport at the human blood-brain barrier investigated in vivo
    • H.E. Moller, J. Weglage, and D. Wiedermann Kinetics of phenylalanine transport at the human blood-brain barrier investigated in vivo Brain Res 778 2 1997 329 337
    • (1997) Brain Res , vol.778 , Issue.2 , pp. 329-337
    • Moller, H.E.1    Weglage, J.2    Wiedermann, D.3
  • 122
    • 0029954988 scopus 로고    scopus 로고
    • Phenylketonuria: Findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment
    • J. Pietz, R. Kreis, and H. Schmidt Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment Radiology 201 2 1996 413 420
    • (1996) Radiology , vol.201 , Issue.2 , pp. 413-420
    • Pietz, J.1    Kreis, R.2    Schmidt, H.3
  • 123
    • 0030438389 scopus 로고    scopus 로고
    • Decreasing choline signal-a marker of phenylketonuria?
    • M. Dezortova, L. Hejcmanova, and M. Hajek Decreasing choline signal-a marker of phenylketonuria? MAGMA 4 3-4 1996 181 186
    • (1996) MAGMA , vol.4 , Issue.3-4 , pp. 181-186
    • Dezortova, M.1    Hejcmanova, L.2    Hajek, M.3
  • 125
    • 0029130812 scopus 로고
    • In-vivo NMR spectroscopy in patients with phenylketonuria: Changes of cerebral phenylalanine levels under dietary treatment
    • H.E. Moller, P. Vermathen, and K. Ullrich In-vivo NMR spectroscopy in patients with phenylketonuria: changes of cerebral phenylalanine levels under dietary treatment Neuropediatrics 26 4 1995 199 202
    • (1995) Neuropediatrics , vol.26 , Issue.4 , pp. 199-202
    • Moller, H.E.1    Vermathen, P.2    Ullrich, K.3
  • 127
    • 0028848826 scopus 로고
    • In vivo measurement of phenylalanine in human brain by proton nuclear magnetic resonance spectroscopy
    • E.J. Novotny Jr, M.J. Avison, and N. Herschkowitz In vivo measurement of phenylalanine in human brain by proton nuclear magnetic resonance spectroscopy Pediatr Res 37 2 1995 244 249
    • (1995) Pediatr Res , vol.37 , Issue.2 , pp. 244-249
    • Novotny Jr., E.J.1    Avison, M.J.2    Herschkowitz, N.3
  • 128
    • 0027929412 scopus 로고
    • Localized brain proton NMR spectroscopy in young adult phenylketonuria patients
    • K. Johannik, P. Van Hecke, and B. Francois Localized brain proton NMR spectroscopy in young adult phenylketonuria patients Magn Reson Med 31 1 1994 53 57
    • (1994) Magn Reson Med , vol.31 , Issue.1 , pp. 53-57
    • Johannik, K.1    Van Hecke, P.2    Francois, B.3
  • 129
    • 0027442717 scopus 로고
    • White matter abnormalities in patients with treated hyperphenylalaninaemia: Magnetic resonance relaxometry and proton spectroscopy findings
    • U. Bick, K. Ullrich, and U. Stober White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings Eur J Pediatr 152 12 1993 1012 1020
    • (1993) Eur J Pediatr , vol.152 , Issue.12 , pp. 1012-1020
    • Bick, U.1    Ullrich, K.2    Stober, U.3
  • 130
    • 0027219957 scopus 로고
    • Proton in vivo spectroscopy of patients with hyperphenylalaninaemia
    • M. Hajek, L. Hejcmanova, and J. Pradny Proton in vivo spectroscopy of patients with hyperphenylalaninaemia Neuropediatrics 24 2 1993 111 112
    • (1993) Neuropediatrics , vol.24 , Issue.2 , pp. 111-112
    • Hajek, M.1    Hejcmanova, L.2    Pradny, J.3
  • 131
    • 85047683086 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia
    • A. Viola, B. Chabrol, and F. Nicoli Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia Pediatr Res 52 2 2002 292 300
    • (2002) Pediatr Res , vol.52 , Issue.2 , pp. 292-300
    • Viola, A.1    Chabrol, B.2    Nicoli, F.3
  • 132
    • 0036549393 scopus 로고    scopus 로고
    • Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: In vivo-in vitro (ex vivo) correlation
    • T.A. Huisman, T. Thiel, and B. Steinmann Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation Eur Radiol 12 4 2002 858 861
    • (2002) Eur Radiol , vol.12 , Issue.4 , pp. 858-861
    • Huisman, T.A.1    Thiel, T.2    Steinmann, B.3
  • 133
    • 0035491393 scopus 로고    scopus 로고
    • Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant
    • C.G. Choi, H.K. Lee, and J.H. Yoon Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant Korean J Radiol 2 4 2001 239 242
    • (2001) Korean J Radiol , vol.2 , Issue.4 , pp. 239-242
    • Choi, C.G.1    Lee, H.K.2    Yoon, J.H.3
  • 134
    • 0034855857 scopus 로고    scopus 로고
    • [Proton MR spectroscopy of nonketotic hyperglycinemia]
    • Y. Suzuki, H. Ueda, and Y. Toribe [Proton MR spectroscopy of nonketotic hyperglycinemia] No To Hattatsu 33 5 2001 422 425
    • (2001) No to Hattatsu , vol.33 , Issue.5 , pp. 422-425
    • Suzuki, Y.1    Ueda, H.2    Toribe, Y.3
  • 135
    • 0035542618 scopus 로고    scopus 로고
    • 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia
    • 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia J Neuroimaging 11 2 2001 209 211
    • (2001) J Neuroimaging , vol.11 , Issue.2 , pp. 209-211
    • Gabis, L.1    Parton, P.2    Roche, P.3
  • 136
    • 0027215862 scopus 로고
    • Noninvasive detection of increased glycine content by proton MR spectroscopy in the brains of two infants with nonketotic hyperglycinemia
    • W. Heindel, H. Kugel, and B. Roth Noninvasive detection of increased glycine content by proton MR spectroscopy in the brains of two infants with nonketotic hyperglycinemia AJNR Am J Neuroradiol 14 3 1993 629 635
    • (1993) AJNR Am J Neuroradiol , vol.14 , Issue.3 , pp. 629-635
    • Heindel, W.1    Kugel, H.2    Roth, B.3
  • 137
    • 0038268475 scopus 로고    scopus 로고
    • MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation
    • W. Jan, R.A. Zimmerman, and Z.J. Wang MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation Neuroradiology 45 6 2003 393 399
    • (2003) Neuroradiology , vol.45 , Issue.6 , pp. 393-399
    • Jan, W.1    Zimmerman, R.A.2    Wang, Z.J.3
  • 138
    • 0030611827 scopus 로고    scopus 로고
    • 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine from patients with inborn errors of metabolism: 2-hydroxyglutaric aciduria and maple syrup urine disease
    • 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine from patients with inborn errors of metabolism: 2-hydroxyglutaric aciduria and maple syrup urine disease J Pharm Biomed Anal 15 11 1997 1647 1659
    • (1997) J Pharm Biomed Anal , vol.15 , Issue.11 , pp. 1647-1659
    • Holmes, E.1    Foxall, P.J.2    Spraul, M.3
  • 139
    • 0029039172 scopus 로고
    • Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease
    • W. Heindel, H. Kugel, and U. Wendel Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease Pediatr Radiol 25 4 1995 296 299
    • (1995) Pediatr Radiol , vol.25 , Issue.4 , pp. 296-299
    • Heindel, W.1    Kugel, H.2    Wendel, U.3
  • 140
    • 0027409118 scopus 로고
    • Maple syrup urine disease: Metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy
    • S.R. Felber, W. Sperl, and A. Chemelli Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy Ann Neurol 33 4 1993 396 401
    • (1993) Ann Neurol , vol.33 , Issue.4 , pp. 396-401
    • Felber, S.R.1    Sperl, W.2    Chemelli, A.3
  • 141
    • 0027375098 scopus 로고
    • Estimation of metabolite concentrations from localized in vivo proton NMR spectra
    • S.W. Provencher Estimation of metabolite concentrations from localized in vivo proton NMR spectra Magn Reson Med 30 6 1993 672 679
    • (1993) Magn Reson Med , vol.30 , Issue.6 , pp. 672-679
    • Provencher, S.W.1
  • 142
    • 0025917905 scopus 로고
    • 1H-NMR studies of urine in propionic acidemia and methylmalonic acidemia
    • 1H-NMR studies of urine in propionic acidemia and methylmalonic acidemia Acta Paediatr Jpn 33 2 1991 139 145
    • (1991) Acta Paediatr Jpn , vol.33 , Issue.2 , pp. 139-145
    • Kodama, S.1    Sugiura, M.2    Nakao, H.3
  • 143
    • 0025598361 scopus 로고
    • Creatine metabolism during metabolic perturbations in patients with organic acidurias
    • S.E. Davies, R.A. Iles, and T.E. Stacey Creatine metabolism during metabolic perturbations in patients with organic acidurias Clin Chim Acta 194 2-3 1990 203 217
    • (1990) Clin Chim Acta , vol.194 , Issue.2-3 , pp. 203-217
    • Davies, S.E.1    Iles, R.A.2    Stacey, T.E.3
  • 144
    • 0022902559 scopus 로고
    • Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy
    • R.A. Iles, R.A. Chalmers, and A.J. Hind Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy Clin Chim Acta 161 2 1986 173 189
    • (1986) Clin Chim Acta , vol.161 , Issue.2 , pp. 173-189
    • Iles, R.A.1    Chalmers, R.A.2    Hind, A.J.3
  • 145
    • 0022189601 scopus 로고
    • Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias
    • R.A. Iles, A.J. Hind, and R.A. Chalmers Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias Clin Chem 31 11 1985 1795 1801
    • (1985) Clin Chem , vol.31 , Issue.11 , pp. 1795-1801
    • Iles, R.A.1    Hind, A.J.2    Chalmers, R.A.3
  • 146
    • 0042706435 scopus 로고    scopus 로고
    • Magnetic resonance imaging and spectroscopy in a patient with treated methylmalonic acidemia
    • M. Takeuchi, M. Harada, and K. Matsuzaki Magnetic resonance imaging and spectroscopy in a patient with treated methylmalonic acidemia J Comput Assist Tomogr 27 4 2003 547 551
    • (2003) J Comput Assist Tomogr , vol.27 , Issue.4 , pp. 547-551
    • Takeuchi, M.1    Harada, M.2    Matsuzaki, K.3
  • 147
    • 0035033273 scopus 로고    scopus 로고
    • Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: Report of two cases and review of the literature
    • B.C. Trinh, E.R. Melhem, and P.B. Barker Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature AJNR Am J Neuroradiol 22 5 2001 831 833
    • (2001) AJNR Am J Neuroradiol , vol.22 , Issue.5 , pp. 831-833
    • Trinh, B.C.1    Melhem, E.R.2    Barker, P.B.3
  • 148
    • 0034037526 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia
    • A.P. Chemelli, M. Schocke, and W. Sperl Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia J Magn Reson Imaging 11 6 2000 596 600
    • (2000) J Magn Reson Imaging , vol.11 , Issue.6 , pp. 596-600
    • Chemelli, A.P.1    Schocke, M.2    Sperl, W.3
  • 149
    • 0031595484 scopus 로고    scopus 로고
    • 1H MR spectroscopy of the basal ganglia in childhood: A semiquantitative analysis
    • 1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis Neuroradiology 40 5 1998 315 323
    • (1998) Neuroradiology , vol.40 , Issue.5 , pp. 315-323
    • Lam, W.W.1    Wang, Z.J.2    Zhao, H.3
  • 150
    • 0030065271 scopus 로고    scopus 로고
    • Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism
    • S.P. Burns, R.A. Iles, and J.M. Saudubray Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism Eur J Pediatr 155 1 1996 31 35
    • (1996) Eur J Pediatr , vol.155 , Issue.1 , pp. 31-35
    • Burns, S.P.1    Iles, R.A.2    Saudubray, J.M.3
  • 151
    • 0029787140 scopus 로고    scopus 로고
    • Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: Clinical and biochemical considerations
    • A.J. Bergman, M.S. Van der Knaap, and J.A. Smeitink Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations Pediatr Res 40 3 1996 404 409
    • (1996) Pediatr Res , vol.40 , Issue.3 , pp. 404-409
    • Bergman, A.J.1    Van Der Knaap, M.S.2    Smeitink, J.A.3
  • 152
    • 4544315182 scopus 로고    scopus 로고
    • Glutaric aciduria type 1: Proton magnetic resonance spectroscopy findings
    • S. Kurul, H. Cakmakci, and E. Dirik Glutaric aciduria type 1: proton magnetic resonance spectroscopy findings Pediatr Neurol 31 3 2004 228 231
    • (2004) Pediatr Neurol , vol.31 , Issue.3 , pp. 228-231
    • Kurul, S.1    Cakmakci, H.2    Dirik, E.3
  • 153
    • 0034152434 scopus 로고    scopus 로고
    • Glutaric aciduria type II: Observations in seven patients with neonatal- and late-onset disease
    • M.A. al-Essa, M.S. Rashed, and S.M. Bakheet Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease J Perinatol 20 2 2000 120 128
    • (2000) J Perinatol , vol.20 , Issue.2 , pp. 120-128
    • Al-Essa, M.A.1    Rashed, M.S.2    Bakheet, S.M.3
  • 154
    • 0028273715 scopus 로고
    • In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia
    • F. Hanefeld, B. Kruse, and H. Bruhn In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia Pediatr Res 35 5 1994 614 616
    • (1994) Pediatr Res , vol.35 , Issue.5 , pp. 614-616
    • Hanefeld, F.1    Kruse, B.2    Bruhn, H.3
  • 155
    • 0348156841 scopus 로고    scopus 로고
    • Single-voxel MR spectroscopy and diffusion-weighted MRI in two patients with l-2-hydroxyglutaric aciduria
    • K. Aydin, M. Ozmen, and B. Tatli Single-voxel MR spectroscopy and diffusion-weighted MRI in two patients with l-2-hydroxyglutaric aciduria Pediatr Radiol 33 12 2003 872 876
    • (2003) Pediatr Radiol , vol.33 , Issue.12 , pp. 872-876
    • Aydin, K.1    Ozmen, M.2    Tatli, B.3
  • 156
    • 0036223076 scopus 로고    scopus 로고
    • Proton MR spectroscopy of basal ganglia in Wilson's disease: Case report and review of literature
    • R. Jayasundar, A.K. Sahani, and S. Gaikwad Proton MR spectroscopy of basal ganglia in Wilson's disease: case report and review of literature Magn Reson Imaging 20 1 2002 131 135
    • (2002) Magn Reson Imaging , vol.20 , Issue.1 , pp. 131-135
    • Jayasundar, R.1    Sahani, A.K.2    Gaikwad, S.3
  • 157
    • 0032767467 scopus 로고    scopus 로고
    • Magnetic resonance imaging and proton MR spectroscopy in Wilson's disease
    • A. Alanen, M. Komu, and M. Penttinen Magnetic resonance imaging and proton MR spectroscopy in Wilson's disease Br J Radiol 72 860 1999 749 756
    • (1999) Br J Radiol , vol.72 , Issue.860 , pp. 749-756
    • Alanen, A.1    Komu, M.2    Penttinen, M.3
  • 158
    • 0032869292 scopus 로고    scopus 로고
    • Magnetic resonance proton spectroscopy of the brain in Wilson's disease
    • E. Kraft, C. Trenkwalder, and F. Then Bergh Magnetic resonance proton spectroscopy of the brain in Wilson's disease J Neurol 246 8 1999 693 699
    • (1999) J Neurol , vol.246 , Issue.8 , pp. 693-699
    • Kraft, E.1    Trenkwalder, C.2    Then Bergh, F.3
  • 159
    • 0034908093 scopus 로고    scopus 로고
    • Proton magnetic resonance spectroscopy of brain metabolites in galactosemia
    • Z.I. Wang, G.T. Berry, and S.F. Dreha Proton magnetic resonance spectroscopy of brain metabolites in galactosemia Ann Neurol 50 2 2001 266 269
    • (2001) Ann Neurol , vol.50 , Issue.2 , pp. 266-269
    • Wang, Z.I.1    Berry, G.T.2    Dreha, S.F.3
  • 160
    • 0035133631 scopus 로고    scopus 로고
    • In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy
    • G.T. Berry, J.V. Hunter, and Z. Wang In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy J Pediatr 138 2 2001 260 262
    • (2001) J Pediatr , vol.138 , Issue.2 , pp. 260-262
    • Berry, G.T.1    Hunter, J.V.2    Wang, Z.3
  • 161
    • 0030722925 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: New clinical features
    • V. Ganesan, A. Johnson, and A. Connelly Guanidinoacetate methyltransferase deficiency: new clinical features Pediatr Neurol 17 2 1997 155 157
    • (1997) Pediatr Neurol , vol.17 , Issue.2 , pp. 155-157
    • Ganesan, V.1    Johnson, A.2    Connelly, A.3
  • 162
    • 0034987448 scopus 로고    scopus 로고
    • X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
    • G.S. Salomons, S.J. van Dooren, and N.M. Verhoeven X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome Am J Hum Genet 68 6 2001 1497 1500
    • (2001) Am J Hum Genet , vol.68 , Issue.6 , pp. 1497-1500
    • Salomons, G.S.1    Van Dooren, S.J.2    Verhoeven, N.M.3
  • 163
    • 0035098030 scopus 로고    scopus 로고
    • Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
    • K.M. Cecil, G.S. Salomons, and W.S. Ball Jr Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 49 3 2001 401 404
    • (2001) Ann Neurol , vol.49 , Issue.3 , pp. 401-404
    • Cecil, K.M.1    Salomons, G.S.2    Ball Jr., W.S.3
  • 164
    • 18344367230 scopus 로고    scopus 로고
    • X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
    • K.A. Hahn, G.S. Salomons, and D. Tackels-Horne X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 Am J Hum Genet 70 5 2002 1349 1356
    • (2002) Am J Hum Genet , vol.70 , Issue.5 , pp. 1349-1356
    • Hahn, K.A.1    Salomons, G.S.2    Tackels-Horne, D.3
  • 165
    • 0034764751 scopus 로고    scopus 로고
    • Arginine:glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans
    • C.B. Item, S. Stockler-Ipsiroglu, and C. Stromberger Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans Am J Hum Genet 69 5 2001 1127 1133
    • (2001) Am J Hum Genet , vol.69 , Issue.5 , pp. 1127-1133
    • Item, C.B.1    Stockler-Ipsiroglu, S.2    Stromberger, C.3
  • 166
    • 0034649446 scopus 로고    scopus 로고
    • Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)
    • V. Leuzzi, M.C. Bianchi, and M. Tosetti Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation) Neurology 55 9 2000 1407 1409
    • (2000) Neurology , vol.55 , Issue.9 , pp. 1407-1409
    • Leuzzi, V.1    Bianchi, M.C.2    Tosetti, M.3
  • 167
    • 0034032637 scopus 로고    scopus 로고
    • Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect
    • M.S. van der Knaap, N.M. Verhoeven, and P. Maaswinkel-Mooij Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect Ann Neurol 47 4 2000 540 543
    • (2000) Ann Neurol , vol.47 , Issue.4 , pp. 540-543
    • Van Der Knaap, M.S.1    Verhoeven, N.M.2    Maaswinkel-Mooij, P.3
  • 168
    • 0031457381 scopus 로고    scopus 로고
    • Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism
    • A. Schulze, T. Hess, and R. Wevers Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism J Pediatr 131 4 1997 626 631
    • (1997) J Pediatr , vol.131 , Issue.4 , pp. 626-631
    • Schulze, A.1    Hess, T.2    Wevers, R.3
  • 169
    • 0027994133 scopus 로고
    • Creatine deficiency in the brain: A new, treatable inborn error of metabolism
    • S. Stockler, U. Holzbach, and F. Hanefeld Creatine deficiency in the brain: a new, treatable inborn error of metabolism Pediatr Res 36 3 1994 409 413
    • (1994) Pediatr Res , vol.36 , Issue.3 , pp. 409-413
    • Stockler, S.1    Holzbach, U.2    Hanefeld, F.3
  • 170
    • 0036823086 scopus 로고    scopus 로고
    • Congenital creatine transporter deficiency
    • T.J. deGrauw, G.S. Salomons, and K.M. Cecil Congenital creatine transporter deficiency Neuropediatrics 33 5 2002 232 238
    • (2002) Neuropediatrics , vol.33 , Issue.5 , pp. 232-238
    • Degrauw, T.J.1    Salomons, G.S.2    Cecil, K.M.3
  • 171
    • 3042544793 scopus 로고    scopus 로고
    • High prevalence of SLC6A8 deficiency in X-linked mental retardation
    • E.H. Rosenberg, L.S. Almeida, and T. Kleefstra High prevalence of SLC6A8 deficiency in X-linked mental retardation Am J Hum Genet 75 1 2004 97 105
    • (2004) Am J Hum Genet , vol.75 , Issue.1 , pp. 97-105
    • Rosenberg, E.H.1    Almeida, L.S.2    Kleefstra, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.