Issue 2/2004
Content (25 Articles)
Executive function impairment in early-treated PKU subjects with normal mental development
V. Leuzzi, M. Pansini, E. Sechi, F. Chiarotti, Cl. Carducci, G. Levi, I. Antonozzi
A new, low-volume protein substitute for teenagers and adults with phenylketonuria
A. MacDonald, M. Lilburn, B. Cochrane, P. Davies, A. Daly, D. Asplin, S. K. Hall, A. Cousins, A. Chakrapani, P. Robinson, P. Lee
Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria
G. L. Arnold, C. J. Vladutiu, C. C. Orlowski, E. M. Blakely, J. DeLuca
The Resource Mothers Study of Maternal Phenylketonuria: Preliminary findings
F. Rohr, A. Munier, D. Sullivan, I. Bailey, M. Gennaccaro, H. Levy, H. Brereton, S. Gleason, B. Goss, E. Lesperance, K. Moseley, R. Singh, L. Tonyes, H. Vespa, S. Waisbren
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation
J. J. Johnston, U. Lichter-Konecki, E. Wilson, B. R. Cobb, B. M. Evans, R. E. Schnur, L -J. C. Wong
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease
K. Hyland, S. Kasim, K. Egami, L. A. Arnold, H. A. Jinnah
How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?
S. Grünewald, L. Fairbanks, S. Genet, T. Cranston, J. Hüsing, J. V. Leonard, M. P. Champion
Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: A twenty-six-year follow-up
R. Santinelli, C. Costagliola, C. Tolone, A. D'Aloia, A. D'Avanzo, F. Prisco, L. Perrone, E. Miraglia del Giudice
Living-donor liver transplantation for propionic acidaemia
T. Yorifuji, M. Kawai, M. Mamada, K. Kurokawa, H. Egawa, Y. Shigematsu, Y. Kohno, K. Tanaka, T. Nakahata
Intrastriatal malonate administration induces convulsive behaviour in rats
J. Fleck, M. C. P. Ribeiro, C. M. Schneider, V. D. G. Sinhorin, M. A. Rubin, C. F. Mello
Clinical benefit in Fabry patients given enzyme replacement therapy—A case series
N. Guffon, A. Fouilhoux
CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy
L. Jardim, L. Vedolin, I. V. D. Schwartz, M. G. Burin, C. Cecchin, L. Kalakun, U. Matte, F. Aesse, C. Pitta-Pinheiro, J. Marconato, R. Giugliani
Juvenile Sandhoff disease—Nine new cases and a review of the literature
C. J. Hendriksz, P. C. Corry, J. E. Wraith, G. T. N. Besley, A. Cooper, C. D. Ferrie
Pro-oxidant and antioxidant factors in acute intermittent porphyria: Family studies
E. Rocchi, P. Ventura, A. Ronzoni, M. C. Rosa, C. Gozzi, L. Marri, G. Casalgrandi, M. D. Cappellini
Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient
D. Galron, O. S. Birk, A. Kazanovitz, S. W. Moses, E. Hershkovitz
Glutathione synthetase deficiency associated with antenatal cerebral bleeding
L. W. Brüggemann, F. Groenendaal, E. Ristoff, A. Larsson, M. Duran, J. A. C. van Lier, L. Dorland, R. Berger, T. J. de Koning
A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells
S. Sumi, A. Ueta, T. Maeda, T. Ito, Y. Ohkubo, H. Togari
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia
A. Peduto, M. Spada, A. Alluto, M. La Dolcetta, A. Ponzone, R. Santer
Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood
A. B. C. Roeleveld-Versteegh, K. P. J. Braun, J. A. M. Smeitink, L. Dorland, T. J. de Koning
Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies
T. Rohininath, D. J. Costello, T. Lynch, A. Monavari, M. Tuchman, E. P. Treacy
Carrier screening for Canavan disease in Australia
V. M. Howell, A. L. Proos, D. LaRue, C. H. Jensen, F. Beach, L. Burnett
Sedation with 4-hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency
N. I. Wolf, D. Haas, G. F. Hoffmann, C. Jakobs, G. S. Salomons, R. A. Wevers, U. F. Engelke, D. Rating
The early-onset phenotype of mitochondrial trifunctional protein deficiency: A lethal disorder with multiple tissue involvement
U. Spiekerkoetter, Z. Khuchua, Z. Yue, A. W. Strauss