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Metabolic disease (inherited)
Citations 41-50 of 116 total displayed.
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Past content
(since Jul 2001):
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- BRIEF COMMUNICATIONS
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition
- L. Salviati, S. Sacconi, L. Murer, G. Zacchello, L. Franceschini, A. M. Laverda, G. Basso, C. Quinzii, C. Angelini, M. Hirano, A. B. Naini, P. Navas, S. DiMauro, and G. Montini
Neurology 2005; 65: 606-608.
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- ARTICLES
A clinical rating scale for Batten disease: Reliable and relevant for clinical trials
- F. J. Marshall, E. A. de Blieck, J. W. Mink, L. Dure, H. Adams, S. Messing, P. G. Rothberg, E. Levy, T. McDonough, J. DeYoung, M. Wang, D. Ramirez-Montealegre, J. M. Kwon, and D. A. Pearce
Neurology 2005; 65: 275-279.
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- BRIEF COMMUNICATIONS
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency
- S. Külkens, I. Harting, S. Sauer, J. Zschocke, G. F. Hoffmann, S. Gruber, O. A. Bodamer, and S. Kölker
Neurology 2005; 64: 2142-2144.
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- BRIEF COMMUNICATIONS
Effect of genetic modifiers on cerebral lesions in Fabry disease
- Gheona Altarescu, David F. Moore, and Raphael Schiffmann
Neurology 2005; 64: 2148-2150.
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- BRIEF COMMUNICATIONS
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
- M. T. Pellecchia, E. M. Valente, L. Cif, S. Salvi, A. Albanese, V. Scarano, U. Bonuccelli, A. R. Bentivoglio, A. D’Amico, C. Marelli, A. Di Giorgio, P. Coubes, P. Barone, and B. Dallapiccola
Neurology 2005; 64: 1810-1812.
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- BRIEF COMMUNICATIONS
Glycine decarboxylase mutations: A distinctive phenotype of nonketotic hyperglycinemia in adults
- A. Dinopoulos, S. Kure, G. Chuck, K. Sato, D. L. Gilbert, Y. Matsubara, and T. Degrauw
Neurology 2005; 64: 1255-1257.
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- CLINICAL/SCIENTIFIC NOTES
Nonepileptic visual hallucinations in Lafora disease
- D. M. Andrade, J. M. del Campo, E. Moro, B. A. Minassian, and R. A. Wennberg
Neurology 2005; 64: 1311-1312.
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- ARTICLES
Lafora disease due to EPM2B mutations: A clinical and genetic study
- C. Gómez-Abad, P. Gómez-Garre, E. Gutiérrez-Delicado, S. Saygi, R. Michelucci, C. A. Tassinari, S. Rodríguez de Córdoba, and J. M. Serratosa
Neurology 2005; 64: 982-986.
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- BRIEF COMMUNICATIONS
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
- P. Moretti, T. Sahoo, K. Hyland, T. Bottiglieri, S. Peters, D. del Gaudio, B. Roa, S. Curry, H. Zhu, R. H. Finnell, J. L. Neul, V. T. Ramaekers, N. Blau, C. A. Bacino, G. Miller, and F. Scaglia
Neurology 2005; 64: 1088-1090.
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- BRIEF COMMUNICATIONS
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
- N. Pineda-Trujillo, W. Cornejo, J. Carrizosa, R. B. Wheeler, S. Múnera, A. Valencia, J. Agudelo-Arango, A. Cogollo, G. Anderson, G. Bedoya, S. E. Mole, and A. Ruíz-Linares
Neurology 2005; 64: 740-742.
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