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Metabolic disease (inherited)
Citations 1-10 of 116 total displayed.
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Most recent content
(25 Aug 2009):
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- ARTICLES
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency
- F. Porta, A. Mussa, D. Concolino, M. Spada, and A. Ponzone
Neurology 2009; 73: 633-637.
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Past content
(since Jul 2001):
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- ARTICLES
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency
- P. L. Pearl, K. M. Gibson, Z. Quezado, I. Dustin, J. Taylor, S. Trzcinski, J. Schreiber, K. Forester, P. Reeves-Tyer, C. Liew, S. Shamim, P. Herscovitch, R. Carson, J. Butman, C. Jakobs, and W. Theodore
Neurology 2009; 73: 423-429.
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- ARTICLES
Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits
- L. A. Abel, M. Walterfang, M. Fietz, E. A. Bowman, and D. Velakoulis
Neurology 2009; 72: 1083-1086.
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- CLINICAL/SCIENTIFIC NOTES
SUPERFICIAL SIDEROSIS: SEALING THE DEFECT
- Neeraj Kumar, John I. Lane, and David G. Piepgras
Neurology 2009; 72: 671-673.
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- ARTICLES
Diagnostic utility of different MRI and MR angiography measures in Fabry disease
- A. Fellgiebel, I. Keller, D. Marin, M. J. Müller, I. Schermuly, I. Yakushev, J. Albrecht, H. Bellhäuser, M. Kinateder, M. Beck, and P. Stoeter
Neurology 2009; 72: 63-68.
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- RESIDENT & FELLOW SECTION
Teaching Video NeuroImage: Chvostek sign with Fahr syndrome in a patient with hypoparathyroidism
- Sunil K. Narayan, P. Sivaprasad, Ram Niranjan Sahoo, and V. Bhuvaneswari
Neurology 2008; 71: e79.
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- ARTICLES
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type
- L. Van Maldergem, M. Yuksel-Apak, H. Kayserili, E. Seemanova, S. Giurgea, L. Basel-Vanagaite, E. Leao-Teles, J. Vigneron, M. Foulon, M. Greally, J. Jaeken, S. Mundlos, and W. B. Dobyns
Neurology 2008; 71: 1602-1608.
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- ARTICLES
Carnitine palmitoyltransferase II deficiency: Successful anaplerotic diet therapy
- C. R. Roe, B-Z Yang, H. Brunengraber, D. S. Roe, M. Wallace, and B. K. Garritson
Neurology 2008; 71: 260-264.
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- RESIDENT AND FELLOW SECTION
Teaching NeuroImage: Cerebrotendinous xanthomatosis
- Brijesh P. Mehta and Robert H. Shmerling
Neurology 2008; 71: e4.
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- ARTICLES
Reduced brain choline in homocystinuria due to remethylation defects
- F. -G. Debray, Y. Boulanger, A. Khiat, J. -C. Decarie, J. Orquin, M. -S. Roy, A. Lortie, F. Ramos, N. M. Verhoeven, E. Struys, H. J. Blom, C. Jakobs, E. Levy, G. A. Mitchell, and M. Lambert
Neurology 2008; 71: 44-49.
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