-
1
-
-
0002277381
-
X-linked adrenoleukodystrophy
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill
-
Moser HW, Smith KD, Moser AB. X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York, NY: McGraw-Hill; 1995; 2325-2349
-
(1995)
The Metabolic Basis of Inherited Disease
, pp. 2325-2349
-
-
Moser, H.W.1
Smith, K.D.2
Moser, A.B.3
-
2
-
-
0026681106
-
Adrenoleukodystrophy: Phenotypic variability, implications for therapy
-
Moser HW, Moser AB, Smith KD, et al. Adrenoleukodystrophy: phenotypic variability, implications for therapy. J Inherit Metab Dis 1992;15:645-664
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 645-664
-
-
Moser, H.W.1
Moser, A.B.2
Smith, K.D.3
-
3
-
-
0001112876
-
Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy
-
Lazo O, Contreras M, Hashmi M, Stanley W, Irazu C, Singh I. Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy. Proc Natl Acad Sci 1988;85:7647-7651
-
(1988)
Proc Natl Acad Sci
, vol.85
, pp. 7647-7651
-
-
Lazo, O.1
Contreras, M.2
Hashmi, M.3
Stanley, W.4
Irazu, C.5
Singh, I.6
-
4
-
-
0023886918
-
Direct evidence that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids
-
Wanders RJA, van Roermond CWT, van Wijland MJA, et al. Direct evidence that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids. Biochem Biophys Res Commun 1988;153:618-624
-
(1988)
Biochem Biophys Res Commun
, vol.153
, pp. 618-624
-
-
Wanders, R.J.A.1
Van Roermond, C.W.T.2
Van Wijland, M.J.A.3
-
5
-
-
0027532282
-
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
-
Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993;361:726-730
-
(1993)
Nature
, vol.361
, pp. 726-730
-
-
Mosser, J.1
Douar, A.M.2
Sarde, C.O.3
-
6
-
-
0028286132
-
CSF findings in adrenoleukodystrophy: Correlation between measures of cytokines, IgG production, and disease severity
-
Philips JP, Lockman LA, Shapiro EG, et al. CSF findings in adrenoleukodystrophy: correlation between measures of cytokines, IgG production, and disease severity. Pediatr Neurol 1994;10: 289-294
-
(1994)
Pediatr Neurol
, vol.10
, pp. 289-294
-
-
Philips, J.P.1
Lockman, L.A.2
Shapiro, E.G.3
-
7
-
-
0029146242
-
Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation
-
Shapiro EG, Lockman LA, Balthazor M, et al. Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 1995;18:413-429
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 413-429
-
-
Shapiro, E.G.1
Lockman, L.A.2
Balthazor, M.3
-
8
-
-
0028071898
-
Childhood cerebral form of adrenoleukodystrophy: Short-term effect of bone marrow transplantation on brain MR observations
-
Loes DJ, Hite S, Stillman AE, et al. Childhood cerebral form of adrenoleukodystrophy: short-term effect of bone marrow transplantation on brain MR observations. AJNR Am J Neuroradiol 1994;15:1767-1771
-
(1994)
AJNR Am J Neuroradiol
, vol.15
, pp. 1767-1771
-
-
Loes, D.J.1
Hite, S.2
Stillman, A.E.3
-
9
-
-
0027428591
-
Clinical proton MR spectroscopy of neurodegenerative disease in childhood
-
Tzika AA, Ball WS Jr, Vigneron DB, Dunn RS, Kirks DR. Clinical proton MR spectroscopy of neurodegenerative disease in childhood. AJNR Am J Neuroradiol 1993;14:1267-1281
-
(1993)
AJNR Am J Neuroradiol
, vol.14
, pp. 1267-1281
-
-
Tzika, A.A.1
Ball Jr., W.S.2
Vigneron, D.B.3
Dunn, R.S.4
Kirks, D.R.5
-
10
-
-
0027427766
-
Childhood adrenoleukodystrophy: Assessment with proton MR spectroscopy
-
Tzika AA, Ball WS Jr, Vigneron DB, Dunn RS, Nelson SJ, Kirks DR. Childhood adrenoleukodystrophy: assessment with proton MR spectroscopy. Radiology 1993;189:467-480
-
(1993)
Radiology
, vol.189
, pp. 467-480
-
-
Tzika, A.A.1
Ball Jr., W.S.2
Vigneron, D.B.3
Dunn, R.S.4
Nelson, S.J.5
Kirks, D.R.6
-
11
-
-
0028018237
-
Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy
-
Kruse B, Barker PB, van Zijl PCM, Duyn JH, Moonen CTW, Moser HW. Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy. Ann Neurol 1994;36:595-608
-
(1994)
Ann Neurol
, vol.36
, pp. 595-608
-
-
Kruse, B.1
Barker, P.B.2
Van Zijl, P.C.M.3
Duyn, J.H.4
Moonen, C.T.W.5
Moser, H.W.6
-
12
-
-
0029951941
-
Proton MR spectroscopy of childhood adrenoleukodystrophy
-
Rajanayagam V, Grad J, Krivit W, et al. Proton MR spectroscopy of childhood adrenoleukodystrophy. AJNR Am J Neuroradiol 1996;17:1013-1024
-
(1996)
AJNR Am J Neuroradiol
, vol.17
, pp. 1013-1024
-
-
Rajanayagam, V.1
Grad, J.2
Krivit, W.3
-
13
-
-
0025285599
-
Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain
-
Van der Knapp MS, Van der Grond J, Van Rijen PC, Faber JAJ, Valk J, Willernse K. Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain. Radiology 1990; 176:509-515
-
(1990)
Radiology
, vol.176
, pp. 509-515
-
-
Van Der Knapp, M.S.1
Van Der Grond, J.2
Van Rijen, P.C.3
Faber, J.A.J.4
Valk, J.5
Willernse, K.6
-
14
-
-
0028507387
-
Metabolite concentration in developing brain estimated with proton MR spectroscopy
-
Toft PB, Leth H, Lou HC, Pryds O, Henrikson O. Metabolite concentration in developing brain estimated with proton MR spectroscopy. J Magn Reson Imaging 1994;4:674-680
-
(1994)
J Magn Reson Imaging
, vol.4
, pp. 674-680
-
-
Toft, P.B.1
Leth, H.2
Lou, H.C.3
Pryds, O.4
Henrikson, O.5
-
18
-
-
84889111211
-
Predicting dementia in white matter disease: Magnetic resonance imaging, magnetic resonance spectroscopy and neuropsychology
-
Balthazor M, Rajanayagam V, Shapiro EG, et al. Predicting dementia in white matter disease: magnetic resonance imaging, magnetic resonance spectroscopy and neuropsychology. Ann Neurol 1996;40:290
-
(1996)
Ann Neurol
, vol.40
, pp. 290
-
-
Balthazor, M.1
Rajanayagam, V.2
Shapiro, E.G.3
-
20
-
-
0028336642
-
Characteristics of the dementia in late-onset metachromatic leukodystrophy
-
Shapiro EG, Lockman LA, Knopman D, Krivit W. Characteristics of the dementia in late-onset metachromatic leukodystrophy. Neurology 1994;44:662-665
-
(1994)
Neurology
, vol.44
, pp. 662-665
-
-
Shapiro, E.G.1
Lockman, L.A.2
Knopman, D.3
Krivit, W.4
-
21
-
-
0024325294
-
N-acetyl-L-aspartic acid: A literature review of a compound prominent in 1H NMR spectroscopic studies of brain
-
Birken DL, Oldendorf WH. N-acetyl-L-aspartic acid: a literature review of a compound prominent in 1H NMR spectroscopic studies of brain. Neurosci Biobehav Rev 1989;13:23-31
-
(1989)
Neurosci Biobehav Rev
, vol.13
, pp. 23-31
-
-
Birken, D.L.1
Oldendorf, W.H.2
-
22
-
-
0026147120
-
1H NMR spectroscopy: N-acetyl-aspartate, creatine and choline
-
1H NMR spectroscopy: N-acetyl-aspartate, creatine and choline. NMR Biomed 1991;4: 47-52
-
(1991)
NMR Biomed
, vol.4
, pp. 47-52
-
-
Miller, B.L.1
-
23
-
-
0027184842
-
A multiparametric data analysis showing the potential of localized proton MR spectroscopy of the brain in the metabolic characterization of neurological diseases
-
Confort-Gouny S, Vion-Dury J, Nicoli F, et al. A multiparametric data analysis showing the potential of localized proton MR spectroscopy of the brain in the metabolic characterization of neurological diseases. J Neurol Sci 1993;118:123-133
-
(1993)
J Neurol Sci
, vol.118
, pp. 123-133
-
-
Confort-Gouny, S.1
Vion-Dury, J.2
Nicoli, F.3
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