-
2
-
-
33644904955
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
[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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
[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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
171
-
-
3042544793
-
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
|