-
1
-
-
72249106379
-
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses
-
de Groot M.J., Hoeksma M., Blau N., Reijngoud D.J., van Spronsen F.J. Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Mol. Genet. Metab. 2010, 99(Suppl. 1):S86-S89.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
de Groot, M.J.1
Hoeksma, M.2
Blau, N.3
Reijngoud, D.J.4
van Spronsen, F.J.5
-
2
-
-
78651049096
-
The dietary phenylalanine requirements and tolerances of phenylketonuric patients
-
Paine R.S., Hsia D.Y. The dietary phenylalanine requirements and tolerances of phenylketonuric patients. AMA J. Dis. Child. 1957, 94:224-230.
-
(1957)
AMA J. Dis. Child.
, vol.94
, pp. 224-230
-
-
Paine, R.S.1
Hsia, D.Y.2
-
3
-
-
34248593225
-
A neuropsychological profile of off-diet adults with phenylketonuria
-
Moyle J.J., Fox A.M., Bynevelt M., Arthur M., Burnett J.R. A neuropsychological profile of off-diet adults with phenylketonuria. J. Clin. Exp. Neuropsychol. 2007, 29:436-441.
-
(2007)
J. Clin. Exp. Neuropsychol.
, vol.29
, pp. 436-441
-
-
Moyle, J.J.1
Fox, A.M.2
Bynevelt, M.3
Arthur, M.4
Burnett, J.R.5
-
4
-
-
84878502615
-
White matter integrity and executive abilities in individuals with phenylketonuria
-
Antenor-Dorsey J.V., Hershey T., Ruttlin J., Shimony J.S., McKinstry R.C., Grange D.K., Christ S.E., White D.A. White matter integrity and executive abilities in individuals with phenylketonuria. Mol. Genet. Metab. 2013, 10.1016/j.ymgme.2013.03.020.
-
(2013)
Mol. Genet. Metab.
-
-
Antenor-Dorsey, J.V.1
Hershey, T.2
Ruttlin, J.3
Shimony, J.S.4
McKinstry, R.C.5
Grange, D.K.6
Christ, S.E.7
White, D.A.8
-
5
-
-
72249095815
-
White matter pathology in phenylketonuria
-
Anderson P.J., Leuzzi V. White matter pathology in phenylketonuria. Mol. Genet. Metab. 2010, 99(Suppl. 1):S3-S9.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
Anderson, P.J.1
Leuzzi, V.2
-
6
-
-
72249101037
-
The role of intelligence in phenylketonuria: a review of research and management
-
Brumm V.L., Grant M.L. The role of intelligence in phenylketonuria: a review of research and management. Mol. Genet. Metab. 2010, 99(Suppl. 1):S18-S21.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
Brumm, V.L.1
Grant, M.L.2
-
7
-
-
72249115976
-
Executive function in early-treated phenylketonuria: profile and underlying mechanisms
-
Christ S.E., Huijbregts S.C., De Sonneville L.M., White D.A. Executive function in early-treated phenylketonuria: profile and underlying mechanisms. Mol. Genet. Metab. 2010, 99(Suppl. 1):S22-S32.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
Christ, S.E.1
Huijbregts, S.C.2
De Sonneville, L.M.3
White, D.A.4
-
8
-
-
45849111413
-
Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function
-
DeRoche K., Welsh M. Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function. Dev. Neuropsychol. 2008, 33:474-504.
-
(2008)
Dev. Neuropsychol.
, vol.33
, pp. 474-504
-
-
DeRoche, K.1
Welsh, M.2
-
9
-
-
72249098974
-
Future treatment strategies in phenylketonuria
-
van Spronsen F.J., Enns G.M. Future treatment strategies in phenylketonuria. Mol. Genet. Metab. 2010, 99(Suppl. 1):S90-S95.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
van Spronsen, F.J.1
Enns, G.M.2
-
10
-
-
72249084519
-
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin
-
Gassio R., Vilaseca M.A., Lambrushini N., Boix C., Fusté M.E., Campistol J. Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin. Mol. Genet. Metab. 2010, 99(Suppl. 1):S75-S78.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
Gassio, R.1
Vilaseca, M.A.2
Lambrushini, N.3
Boix, C.4
Fusté, M.E.5
Campistol, J.6
-
11
-
-
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.P., Almli C.R., McKinstry R.C. Normal brain maturation during childhood: developmental trends characterized with diffusion-tensor MR imaging. Radiology 2001, 221:349-358.
-
(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.P.5
Almli, C.R.6
McKinstry, R.C.7
-
12
-
-
0347138015
-
MR in phenylketonuria-related brain lesions
-
Dezortova M., Hajek M., Tintera J., Hejcmanova L., Sykova E. MR in phenylketonuria-related brain lesions. Acta Radiol. 2001, 42:459-466.
-
(2001)
Acta Radiol.
, vol.42
, pp. 459-466
-
-
Dezortova, M.1
Hajek, M.2
Tintera, J.3
Hejcmanova, L.4
Sykova, E.5
-
13
-
-
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., Minamikawa S., Ozawa N., Yokote H., Inoue Y. Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 2005, 236:630-636.
-
(2005)
Radiology
, vol.236
, pp. 630-636
-
-
Kono, K.1
Okano, Y.2
Nakayama, K.3
Hase, Y.4
Minamikawa, S.5
Ozawa, N.6
Yokote, H.7
Inoue, Y.8
-
14
-
-
33947680171
-
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0Tesla MRI and magnetic resonance spectroscopy (1H MRS) study
-
Leuzzi V., Tosetti M., Montanaro D., Carducci C., Artiola C., Carducci C., Antonozzi I., Burroni M., Carnevale F., Chiarotti F., Popolizio T., Giannatempo G.M., D'Alesio V., Scarabino T. The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0Tesla MRI and magnetic resonance spectroscopy (1H MRS) study. J. Inherit. Metab. Dis. 2007, 30:209-216.
-
(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, V.13
Scarabino, T.14
-
15
-
-
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., Salvolini U. Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion. Radiol. Med. 2009, 114:461-474.
-
(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
-
16
-
-
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., Kreis R. Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. Magn. Reson. Med. 2007, 58:1145-1156.
-
(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
-
17
-
-
72249092405
-
Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum
-
White D.A., Connor L.T., Nardos B., Shimony J.S., Archer R., Snyder A.Z., Moinuddin A., Grange D.K., Steiner R.D., McKinstry R.C. Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. Mol. Genet. Metab. 2010, 99(Suppl. 1):S41-S46.
-
(2010)
Mol. Genet. Metab.
, vol.99
, Issue.SUPPL. 1
-
-
White, D.A.1
Connor, L.T.2
Nardos, B.3
Shimony, J.S.4
Archer, R.5
Snyder, A.Z.6
Moinuddin, A.7
Grange, D.K.8
Steiner, R.D.9
McKinstry, R.C.10
-
18
-
-
84898780477
-
Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria
-
(in press)
-
Peng H., Peck D., White D.A., Christ S.E. Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria. J. Inherit. Metab. Dis. 2013, (in press).
-
(2013)
J. Inherit. Metab. Dis.
-
-
Peng, H.1
Peck, D.2
White, D.A.3
Christ, S.E.4
-
19
-
-
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., Jenkins J.P. Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J. Pediatr. 1995, 127:251-255.
-
(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, J.P.6
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