Metabolic disease (inherited)

Citations 71-80 of 116 total displayed.

Past content (since Jul 2001):

ARTICLES
Neuropsychological assessment of patients with late onset G_M2 gangliosidosis

C. M. Zaroff, O. Neudorfer, C. Morrison, G. M. Pastores, H. Rubin, and E. H. Kolodny
Neurology 2004; 62: 2283-2286. [Abstract] [Full text] [PDF]  

ARTICLES
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder

J. Gootjes, F. Skovby, E. Christensen, R. J.A. Wanders, and S. Ferdinandusse
Neurology 2004; 62: 2077-2081. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?

I. Moroni, M. Bugiani, L. D’Incerti, C. Maccagnano, M. Rimoldi, L. Bissola, B. Pollo, G. Finocchiaro, and G. Uziel
Neurology 2004; 62: 1882-1884. [Abstract] [Full text] [PDF]  

EDITORIALS
Where has all the white matter gone?: Unraveling the mysteries of leukoencephalopathies

Edward M. Kaye and Hugo Moser
Neurology 2004; 62: 1464-1465. [Full text] [PDF]  

BRIEF COMMUNICATIONS
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5

H. Ohtake, T. Shimohata, K. Terajima, T. Kimura, R. Jo, R. Kaseda, O. Iizuka, M. Takano, Y. Akaiwa, H. Goto, H. Kobayashi, T. Sugai, T. Muratake, T. Hosoki, T. Shioiri, K. Okamoto, O. Onodera, K. Tanaka, T. Someya, T. Nakada, and S. Tsuji
Neurology 2004; 62: 1601-1603. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Neurologic manifestations of Kanzaki disease

F. Umehara, K. Matsumuro, Y. Kurono, K. Arimura, M. Osame, and T. Kanzaki
Neurology 2004; 62: 1604-1606. [Abstract] [Full text] [PDF]  

VIEWS & REVIEWS
Aromatic L-amino acid decarboxylase deficiency: Clinical features, treatment, and prognosis

R. Pons, B. Ford, C. A. Chiriboga, P. T. Clayton, V. Hinton, K. Hyland, R. Sharma, and D. C. De Vivo
Neurology 2004; 62: 1058-1065. [Abstract] [Full text] [PDF]  

ARTICLES
Enzyme replacement therapy improves function of C-, A-, and Aß-nerve fibers in Fabry neuropathy

M. J. Hilz, M. Brys, H. Marthol, B. Stemper, and M. Dütsch
Neurology 2004; 62: 1066-1072. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Mevalonate kinase deficiency: Evidence for a phenotypic continuum

A. Simon, H. P.H. Kremer, R. A. Wevers, H. Scheffer, J. G. de Jong, J. W.M. van der Meer, and J. P.H. Drenth
Neurology 2004; 62: 994-997. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency

T. Ethofer, U. Seeger, U. Klose, M. Erb, B. Kardatzki, E. Kraft, G. B. Landwehrmeyer, W. Grodd, and A. Storch
Neurology 2004; 62: 1016-1018. [Abstract] [Full text] [PDF]  

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