-
1
-
-
34848850451
-
The PAH gene, phenylketonuria, and a paradigm shift
-
Scriver C.R. The PAH gene, phenylketonuria, and a paradigm shift. Hum. Mutat. 28 (2007) 831-845
-
(2007)
Hum. Mutat.
, vol.28
, pp. 831-845
-
-
Scriver, C.R.1
-
2
-
-
0000134296
-
Hyperphenylalaninemia: phenylalanine hydroxylase deficiency
-
Scriver C.R., Beaudet A.L., Sly W., Valle D., Childs B., and Vogelstein B. (Eds), McGraw-Hill, New York
-
Scriver C.R., and Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver C.R., Beaudet A.L., Sly W., Valle D., Childs B., and Vogelstein B. (Eds). The Metabolic and Molecular Basis of Inherited Disease (2001), McGraw-Hill, New York 1667-1724
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 1667-1724
-
-
Scriver, C.R.1
Kaufman, S.2
-
3
-
-
45849111413
-
Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function
-
DeRoche K., and Welsh M. Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function. Dev. Neuropsychol. 33 (2008) 474-504
-
(2008)
Dev. Neuropsychol.
, vol.33
, pp. 474-504
-
-
DeRoche, K.1
Welsh, M.2
-
5
-
-
1842588465
-
Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities
-
Anderson P.J., Wood S.J., Francis D.E., Coleman L., Warwick L., Casanelia S., Anderson V.A., and Boneh A. Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities. Dev. Med. Child Neurol. 46 (2004) 230-238
-
(2004)
Dev. Med. Child Neurol.
, vol.46
, pp. 230-238
-
-
Anderson, P.J.1
Wood, S.J.2
Francis, D.E.3
Coleman, L.4
Warwick, L.5
Casanelia, S.6
Anderson, V.A.7
Boneh, A.8
-
6
-
-
0027442717
-
White matter abnormalities in patients with treated hyperphenylalaninemia: magnetic resonance relaxometry and proton spectroscopy findings
-
Bick U., Ullrich K., Stober U., Moller H., Schuierer G., Ludolph A.C., Oberwittler C., Weglage J., and Wendel U. White matter abnormalities in patients with treated hyperphenylalaninemia: magnetic resonance relaxometry and proton spectroscopy findings. Eur. J. Pediatr. 152 (1993) 1012-1020
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 1012-1020
-
-
Bick, U.1
Ullrich, K.2
Stober, U.3
Moller, H.4
Schuierer, G.5
Ludolph, A.C.6
Oberwittler, C.7
Weglage, J.8
Wendel, U.9
-
7
-
-
0028298895
-
Magnetic resonance imaging of the brain in phenylketonuria
-
Cleary M.A., Walter J.H., Wraith J.E., Jenkins J.P., Alani S.M., Tyler K., and Whittle D. Magnetic resonance imaging of the brain in phenylketonuria. Lancet 344 (1994) 87-90
-
(1994)
Lancet
, vol.344
, pp. 87-90
-
-
Cleary, M.A.1
Walter, J.H.2
Wraith, J.E.3
Jenkins, J.P.4
Alani, S.M.5
Tyler, K.6
Whittle, D.7
-
8
-
-
0029095727
-
Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change
-
Cleary M.A., Walter J.H., Wraith J.E., White F., Tyler K., and Jenkins P.R. Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J. Pediatr. 127 (1995) 251-255
-
(1995)
J. Pediatr.
, vol.127
, pp. 251-255
-
-
Cleary, M.A.1
Walter, J.H.2
Wraith, J.E.3
White, F.4
Tyler, K.5
Jenkins, P.R.6
-
9
-
-
0347138015
-
MR in phenylketonuria-related brain lesions
-
Dezortova M., Jajek M., Tintera J., Hejcmanova L., and Sykova E. MR in phenylketonuria-related brain lesions. Acta Radiol. 42 (2001) 459-466
-
(2001)
Acta Radiol.
, vol.42
, pp. 459-466
-
-
Dezortova, M.1
Jajek, M.2
Tintera, J.3
Hejcmanova, L.4
Sykova, E.5
-
10
-
-
22544456859
-
Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter
-
Kono K., Okano Y., Nakayama K., Hase Y., Minamkiawa S., Ozawa N., Yokote H., and Inoue Y. Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 236 (2005) 630-636
-
(2005)
Radiology
, vol.236
, pp. 630-636
-
-
Kono, K.1
Okano, Y.2
Nakayama, K.3
Hase, Y.4
Minamkiawa, S.5
Ozawa, N.6
Yokote, H.7
Inoue, Y.8
-
11
-
-
33947680171
-
1H MRS) study
-
1H MRS) study. J. Inherit. Metab. Dis. 30 (2007) 209-216
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 209-216
-
-
Leuzzi, V.1
Tosetti, M.2
Montanaro, D.3
Carducci, C.4
Artiola, C.5
Carducci, C.6
Antonozzi, I.7
Burroni, M.8
Carnevale, F.9
Chiarotti, F.10
Popolizio, T.11
Giannatempo, G.M.12
D'Alesio, B.13
Scarabino, T.14
-
12
-
-
70449527470
-
-
EPub ahead of print
-
R. Manara, A.P. Burlina, V. Citton, M. Ermani, F. Vespignani, C. Carollo, A.B. Burlina, Brain MRI diffusion-weighted imaing in patients with classical phenylketonuria, Neuroradiology 2009 (EPub ahead of print).
-
(2009)
Brain MRI diffusion-weighted imaing in patients with classical phenylketonuria, Neuroradiology
-
-
Manara, R.1
Burlina, A.P.2
Citton, V.3
Ermani, M.4
Vespignani, F.5
Carollo, C.6
Burlina, A.B.7
-
13
-
-
0034821252
-
Diffusion-weighted imaging of white matter abnormalities in patient with phenylketonuria
-
Phillips M.D., McGraw P., Lowe M.J., Mathews V.P., and Hainline B.E. Diffusion-weighted imaging of white matter abnormalities in patient with phenylketonuria. Am. J. Neuroradiol. 22 (2001) 1583-1586
-
(2001)
Am. J. Neuroradiol.
, vol.22
, pp. 1583-1586
-
-
Phillips, M.D.1
McGraw, P.2
Lowe, M.J.3
Mathews, V.P.4
Hainline, B.E.5
-
14
-
-
67649535597
-
Phenylketonuria: white matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion
-
Scarabino T., Popolizio T., Tosetti M., Montanaro D., Giannatempo G.M., Terlizzi R., Pollice S., Maiorana A., Maggialetti N., Carriero A., Leuzzi V., and Salvolini U. Phenylketonuria: white matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion. Radiol. Med. 114 (2009) 461-474
-
(2009)
Radiol. Med.
, vol.114
, pp. 461-474
-
-
Scarabino, T.1
Popolizio, T.2
Tosetti, M.3
Montanaro, D.4
Giannatempo, G.M.5
Terlizzi, R.6
Pollice, S.7
Maiorana, A.8
Maggialetti, N.9
Carriero, A.10
Leuzzi, V.11
Salvolini, U.12
-
15
-
-
36849066914
-
Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging
-
Vermathen P., Robert-Tissot L., Pietz J., Lutz T., Boesch C., and Kreis R. Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. Magn. Reson. Med. 58 (2007) 1145-1156
-
(2007)
Magn. Reson. Med.
, vol.58
, pp. 1145-1156
-
-
Vermathen, P.1
Robert-Tissot, L.2
Pietz, J.3
Lutz, T.4
Boesch, C.5
Kreis, R.6
-
16
-
-
0000412135
-
Evidence for the importance of dopamine for prefrontal functions early in life
-
Roberts A., and Robbins T. (Eds), Oxford University Press, New York
-
Diamond A. Evidence for the importance of dopamine for prefrontal functions early in life. In: Roberts A., and Robbins T. (Eds). The Prefrontal Cortex: Executive and Cognitive Functions (1998), Oxford University Press, New York 144-164
-
(1998)
The Prefrontal Cortex: Executive and Cognitive Functions
, pp. 144-164
-
-
Diamond, A.1
-
17
-
-
34848928466
-
Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels?
-
Anderson P.J., Wood S.J., Francis D.E., Coleman L., Anderson V., and Boneh A. Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels?. Dev. Neuropsychol. 32 (2007) 645-668
-
(2007)
Dev. Neuropsychol.
, vol.32
, pp. 645-668
-
-
Anderson, P.J.1
Wood, S.J.2
Francis, D.E.3
Coleman, L.4
Anderson, V.5
Boneh, A.6
-
18
-
-
33646115442
-
Global and regional volume changes in the brains of patients with phenylketonuria
-
Pérez-Dueñas B., Pujol J., Soriano-Mas C., Ortiz H., Artuch R., Vilaseca M.A., and Campistol J. Global and regional volume changes in the brains of patients with phenylketonuria. Neurology 66 (2006) 1074-1078
-
(2006)
Neurology
, vol.66
, pp. 1074-1078
-
-
Pérez-Dueñas, B.1
Pujol, J.2
Soriano-Mas, C.3
Ortiz, H.4
Artuch, R.5
Vilaseca, M.A.6
Campistol, J.7
-
19
-
-
24344447321
-
MR imaging-based volumetry in patients with early-treated phenylketonuria
-
Pfaendner N.H., Reuner G., Pietz J., Jost G., Rating D., Magnotta V.A., Mohr A., Kress B., Sartor K., and Hahnel S. MR imaging-based volumetry in patients with early-treated phenylketonuria. Am. J. Neuroradiol. 26 (2005) 1681-1685
-
(2005)
Am. J. Neuroradiol.
, vol.26
, pp. 1681-1685
-
-
Pfaendner, N.H.1
Reuner, G.2
Pietz, J.3
Jost, G.4
Rating, D.5
Magnotta, V.A.6
Mohr, A.7
Kress, B.8
Sartor, K.9
Hahnel, S.10
-
20
-
-
0036153883
-
Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases
-
Engelbrecht V., Scherer A., Rassek M., Witsack H.J., and Modder U. Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases. Radiology 222 (2002) 410-418
-
(2002)
Radiology
, vol.222
, pp. 410-418
-
-
Engelbrecht, V.1
Scherer, A.2
Rassek, M.3
Witsack, H.J.4
Modder, U.5
-
21
-
-
16544388112
-
Diffusion magnetic resonance imaging patterns in metabolic and toxic brain disorders
-
R.N. Sener, Diffusion magnetic resonance imaging patterns in metabolic and toxic brain disorders, Acta Radiol. 45 (2004) 561-570.
-
(2004)
Acta Radiol
, vol.45
, pp. 561-570
-
-
Sener, R.N.1
-
22
-
-
42949100727
-
MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients
-
Ding X., Fiehler J., Kohlschutter B., Wittkugel O., Grzyska U., Zeumer H., and Ullrich K. MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients. J. Magn. Reson. Imaging 27 (2008) 998-1004
-
(2008)
J. Magn. Reson. Imaging
, vol.27
, pp. 998-1004
-
-
Ding, X.1
Fiehler, J.2
Kohlschutter, B.3
Wittkugel, O.4
Grzyska, U.5
Zeumer, H.6
Ullrich, K.7
-
23
-
-
0043207557
-
Phenylketonuria: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy
-
Sener R.N. Phenylketonuria: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy. J. Comput. Assist. Tomogr. 27 (2003) 541-543
-
(2003)
J. Comput. Assist. Tomogr.
, vol.27
, pp. 541-543
-
-
Sener, R.N.1
-
24
-
-
16644372978
-
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: correlation with intelligence assessment
-
Peng S.S., Tseng W.Y., Chien Y.H., Hwu W.L., and Liu H.M. Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: correlation with intelligence assessment. Am. J. Neuroradiol. 25 (2004) 1569-1574
-
(2004)
Am. J. Neuroradiol.
, vol.25
, pp. 1569-1574
-
-
Peng, S.S.1
Tseng, W.Y.2
Chien, Y.H.3
Hwu, W.L.4
Liu, H.M.5
-
25
-
-
33747773471
-
Topography of the human corpus callosum revisited-comprehensive fiber tractography using diffusion tensor magnetic resonance imaging
-
Hofer S., and Frahm J. Topography of the human corpus callosum revisited-comprehensive fiber tractography using diffusion tensor magnetic resonance imaging. Neuroimage 32 (2006) 989-994
-
(2006)
Neuroimage
, vol.32
, pp. 989-994
-
-
Hofer, S.1
Frahm, J.2
-
26
-
-
0037372166
-
Diffusion-tensor MR imaging of normal brain maturation: a guide to structural development and myelination
-
Miller J.H., McKinstry R.C., Philip J.V., Mukherjee P., and Neil J.J. Diffusion-tensor MR imaging of normal brain maturation: a guide to structural development and myelination. Am. J. Roentgenol. 180 (2003) 851-859
-
(2003)
Am. J. Roentgenol.
, vol.180
, pp. 851-859
-
-
Miller, J.H.1
McKinstry, R.C.2
Philip, J.V.3
Mukherjee, P.4
Neil, J.J.5
-
27
-
-
0034755775
-
Normal brain maturation during childhood: developmental trends characterized with diffusion-tensor MR imaging
-
Mukherjee P., Miller J.H., Shimony J.S., Conturo T.E., Lee B.C., Almli C.R., and McKinstry R.C. Normal brain maturation during childhood: developmental trends characterized with diffusion-tensor MR imaging. Radiology 221 (2001) 349-358
-
(2001)
Radiology
, vol.221
, pp. 349-358
-
-
Mukherjee, P.1
Miller, J.H.2
Shimony, J.S.3
Conturo, T.E.4
Lee, B.C.5
Almli, C.R.6
McKinstry, R.C.7
-
28
-
-
33644889389
-
Diffusion tensor imaging and tractography of human brain development
-
Mukherjee P., and McKinstry R.C. Diffusion tensor imaging and tractography of human brain development. Neuroimaging Clin. N. Am. 16 (2006) 19-43
-
(2006)
Neuroimaging Clin. N. Am.
, vol.16
, pp. 19-43
-
-
Mukherjee, P.1
McKinstry, R.C.2
-
30
-
-
0029186447
-
A modality-independent approach to spatial normalization of tomographic images of the human brain
-
Lancaster J.L., Glass T.G., Lankipalli B.R., Downs H., Mayberg H., and Fox P.T. A modality-independent approach to spatial normalization of tomographic images of the human brain. Hum. Brain Mapp. 3 (1995) 209-223
-
(1995)
Hum. Brain Mapp.
, vol.3
, pp. 209-223
-
-
Lancaster, J.L.1
Glass, T.G.2
Lankipalli, B.R.3
Downs, H.4
Mayberg, H.5
Fox, P.T.6
-
31
-
-
33745206702
-
Age-related degeneration of corpus callosum measured with diffusion tensor imaging
-
Ota M., Obata T., Akine Y., Ito H., Ikehira H., Asada T., and Suhara T. Age-related degeneration of corpus callosum measured with diffusion tensor imaging. Neuroimage 31 (2006) 1445-1452
-
(2006)
Neuroimage
, vol.31
, pp. 1445-1452
-
-
Ota, M.1
Obata, T.2
Akine, Y.3
Ito, H.4
Ikehira, H.5
Asada, T.6
Suhara, T.7
-
32
-
-
33947681244
-
Diffusion tensor imaging in the corpus callosum in children after moderate to severe traumatic brain injury
-
Wilde E.A., Chu Z., Bigler E.D., Hunter J.V., Fearing M.A., Hanten G., Newsome M.R., Scheibel R.S., Li X., and Levin H.S. Diffusion tensor imaging in the corpus callosum in children after moderate to severe traumatic brain injury. J. Neurotrauma 23 (2006) 1412-1426
-
(2006)
J. Neurotrauma
, vol.23
, pp. 1412-1426
-
-
Wilde, E.A.1
Chu, Z.2
Bigler, E.D.3
Hunter, J.V.4
Fearing, M.A.5
Hanten, G.6
Newsome, M.R.7
Scheibel, R.S.8
Li, X.9
Levin, H.S.10
-
33
-
-
0028398052
-
Estimation of the effective self-diffusion tensor from the NMR spin echo
-
Basser P.J., Mattiello J., and LeBihan D. Estimation of the effective self-diffusion tensor from the NMR spin echo. J. Magn. Reson. B 103 (1994) 247-254
-
(1994)
J. Magn. Reson. B
, vol.103
, pp. 247-254
-
-
Basser, P.J.1
Mattiello, J.2
LeBihan, D.3
-
34
-
-
0029403019
-
Inferring microstructural features and the physiological state of tissues from diffusion-weighted images
-
Basser P.J. Inferring microstructural features and the physiological state of tissues from diffusion-weighted images. NMR Biomed. 8 (1995) 333-344
-
(1995)
NMR Biomed.
, vol.8
, pp. 333-344
-
-
Basser, P.J.1
-
35
-
-
59849120110
-
Aging white matter and cognition: differential effects of regional variations in diffusion properties on memory, executive functions, and speed
-
Kennedy K.M., and Raz N. Aging white matter and cognition: differential effects of regional variations in diffusion properties on memory, executive functions, and speed. Neuropsychologia 47 (2009) 916-927
-
(2009)
Neuropsychologia
, vol.47
, pp. 916-927
-
-
Kennedy, K.M.1
Raz, N.2
-
36
-
-
59949088843
-
Cerebral white matter integrity mediates adult age differences in cognitive performance
-
Madden D.J., Spaniol J., Costello M.C., Bucur B., White L.E., Cabeza R., Davis S.W., Dennis N.A., Provenzale J.M., and Huettel S.A. Cerebral white matter integrity mediates adult age differences in cognitive performance. J. Cogn. Neurosci. 21 (2009) 289-302
-
(2009)
J. Cogn. Neurosci.
, vol.21
, pp. 289-302
-
-
Madden, D.J.1
Spaniol, J.2
Costello, M.C.3
Bucur, B.4
White, L.E.5
Cabeza, R.6
Davis, S.W.7
Dennis, N.A.8
Provenzale, J.M.9
Huettel, S.A.10
-
37
-
-
0033664143
-
Interhemispheric interaction during childhood: II. Children with early-treated phenylketonuria
-
Banich M.T., Passarotti A.M., White D.A., Nortz M.J., and Steiner R.D. Interhemispheric interaction during childhood: II. Children with early-treated phenylketonuria. Dev. Neuropsychol. 18 (2000) 53-71
-
(2000)
Dev. Neuropsychol.
, vol.18
, pp. 53-71
-
-
Banich, M.T.1
Passarotti, A.M.2
White, D.A.3
Nortz, M.J.4
Steiner, R.D.5
-
38
-
-
0028302694
-
Interhemispheric transfer in children with early-treated phenylketonuria
-
Gourevitch M.L., Craft S., Dowton S.B., Ambrose P., and Sparta S. Interhemispheric transfer in children with early-treated phenylketonuria. J. Clin. Exp. Neuropsychol. 16 (1994) 393-404
-
(1994)
J. Clin. Exp. Neuropsychol.
, vol.16
, pp. 393-404
-
-
Gourevitch, M.L.1
Craft, S.2
Dowton, S.B.3
Ambrose, P.4
Sparta, S.5
-
39
-
-
0034829690
-
Deficits in memory strategy use related to prefrontal dysfunction during early development: evidence from children with phenylketonuria
-
White D.A., Nortz M.J., Mandernach T., Huntington K., and Steiner R.D. Deficits in memory strategy use related to prefrontal dysfunction during early development: evidence from children with phenylketonuria. Neuropsychology 15 (2001) 221-229
-
(2001)
Neuropsychology
, vol.15
, pp. 221-229
-
-
White, D.A.1
Nortz, M.J.2
Mandernach, T.3
Huntington, K.4
Steiner, R.D.5
-
40
-
-
0036161455
-
Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria
-
White D.A., Nortz M.J., Mandernach T., Huntington K., and Steiner R.D. Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria. J. Int. Neuropsychol. Soc. 8 (2002) 1-11
-
(2002)
J. Int. Neuropsychol. Soc.
, vol.8
, pp. 1-11
-
-
White, D.A.1
Nortz, M.J.2
Mandernach, T.3
Huntington, K.4
Steiner, R.D.5
|