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Metabolic disease (inherited)
Citations 91-100 of 116 total displayed.
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Past content
(since Jul 2001):
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- ARTICLES
Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease
- K. Brockmann, P. Dechent, B. Wilken, O. Rusch, J. Frahm, and F. Hanefeld
Neurology 2003; 60: 819-825.
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- BRIEF COMMUNICATIONS
Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency
- P. C. Goldenberg, R. D. Steiner, L. S. Merkens, T. Dunaway, R. A. Egan, E. A. Zimmerman, G. Nesbit, B. Robinson, and N. G. Kennaway
Neurology 2003; 60: 865-868.
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- BRIEF COMMUNICATIONS
Juvenile-onset glycogen storage disease type II with novel mutations in acid  -glucosidase gene
- C. W. Lam, Y. P. Yuen, K. Y. Chan, S. F. Tong, C. K. Lai, T. C. Chow, K. C. Lee, Y. W. Chan, and F. Martiniuk
Neurology 2003; 60: 715-717.
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- BRIEF COMMUNICATIONS
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency
- N. Nardocci, G. Zorzi, N. Blau, E. Fernandez Alvarez, M. Sesta, L. Angelini, M. Pannacci, F. Invernizzi, and B. Garavaglia
Neurology 2003; 60: 335-337.
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- BRIEF COMMUNICATIONS
Adult onset glutaric aciduria type I presenting with a leukoencephalopathy
- O. Bähr, I. Mader, J. Zschocke, J. Dichgans, and J.B. Schulz
Neurology 2002; 59: 1802-1804.
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- CLINICAL/SCIENTIFIC NOTES
An autoantibody to GAD65 in sera of patients with juvenile neuronal ceroid lipofuscinoses
- Subrata Chattopadhyay, Elizabeth Kriscenski-Perry, David A. Wenger, and David A. Pearce
Neurology 2002; 59: 1816-1817.
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- ARTICLES
Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children
- Nicole I. Wolf and Jan A.M. Smeitink
Neurology 2002; 59: 1402-1405.
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- ARTICLES
Diagnostic criteria for respiratory chain disorders in adults and children
- F.P. Bernier, A. Boneh, X. Dennett, C.W. Chow, M.A. Cleary, and D.R. Thorburn
Neurology 2002; 59: 1406-1411.
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- BRIEF COMMUNICATIONS
CNS demyelination associated with copper deficiency and hyperzincemia
- C.I. Prodan, N.R. Holland, P.J. Wisdom, S.A. Burstein, and S.S. Bottomley
Neurology 2002; 59: 1453-1456.
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- ARTICLES
Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose
- Mette C. Ørngreen, David B. Olsen, and John Vissing
Neurology 2002; 59: 1046-1051.
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