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Metabolic disease (inherited)
Citations 61-70 of 116 total displayed.
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Past content
(since Jul 2001):
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- BRIEF COMMUNICATIONS
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency
- A. Schiller, R. A. Wevers, G. C.H. Steenbergen, N. Blau, and H. H. Jung
Neurology 2004; 63: 1524-1526.
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- CLINICAL/SCIENTIFIC NOTES
Charcot–Marie–Tooth features and maculopathy in a patient with Danon disease
- P. Laforêt, P. Charron, T. Maisonobe, N. B. Romero, E. Villard, P. Sebillon, V. Drouin-Garraud, O. Dubourg, M. Fardeau, M. Komajda, and B. Eymard
Neurology 2004; 63: 1535.
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- BRIEF COMMUNICATIONS
Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality
- Y. Nobuhara, K. Nakahara, I. Higuchi, T. Yoshida, S. Fushiki, M. Osame, K. Arimura, and M. Nakagawa
Neurology 2004; 63: 1302-1304.
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- ARTICLES
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
- C. Bruno, O. P. van Diggelen, D. Cassandrini, M. Gimpelev, B. Giuffrè, M. A. Donati, P. Introvini, A. Alegria, S. Assereto, L. Morandi, M. Mora, E. Tonoli, S. Mascelli, M. Traverso, E. Pasquini, M. Bado, L. Vilarinho, G. van Noort, F. Mosca, S. DiMauro, F. Zara, and C. Minetti
Neurology 2004; 63: 1053-1058.
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- BRIEF COMMUNICATIONS
Infantile neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration: Locus heterogeneity
- K. Hörtnagel, N. Nardocci, G. Zorzi, B. Garavaglia, E. Botz, T. Meitinger, and T. Klopstock
Neurology 2004; 63: 922-924.
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- CLINICAL/SCIENTIFIC NOTES
Effect of D-penicillamine on neuromuscular junction in patients with Wilson disease
- R. N. Komal Kumar, S. A. Patil, A. B. Taly, M. Nirmala, S. Sinha, and G. R. Arunodaya
Neurology 2004; 63: 935-936.
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- ARTICLES
Clinical correlation of brain MRI and MRS abnormalities in patients with Wilson disease
- R. A. Page, C. A. Davie, D. MacManus, K. A. Miszkiel, J. M. Walshe, D. H. Miller, A. J. Lees, and A. H.V. Schapira
Neurology 2004; 63: 638-643.
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- BRIEF COMMUNICATIONS
Deterioration of the auditory brainstem response in children with type 3 Gaucher disease
- Pauline E. Campbell, Chris M. Harris, and Ashok Vellodi
Neurology 2004; 63: 385-387.
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- CLINICAL/SCIENTIFIC NOTES
Tremor and deep white matter changes in  -methylacyl-CoA racemase deficiency
- C. E. Clarke, S. Alger, M. A. Preece, M. A. Burdon, S. Chavda, S. Denis, S. Ferdinandusse, and R. J.A. Wanders
Neurology 2004; 63: 188-189.
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- ARTICLES
A new diagnostic test for VLCAD deficiency using immunohistochemistry
- Y. Ohashi, Y. Hasegawa, K. Murayama, M. Ogawa, T. Hasegawa, M. Kawai, N. Sakata, K. Yoshida, H. Yarita, K. Imai, I. Kumagai, K. Murakami, H. Hasegawa, S. Noguchi, I. Nonaka, S. Yamaguchi, and I. Nishino
Neurology 2004; 62: 2209-2213.
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