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Neurology
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Metabolic disease (inherited)

Citations 1-10 of 112 total displayed.

Most recent content (6 Jan 2009):

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. [Abstract] [Full text] [PDF]  

Past content (since Jul 2001):

RESIDENT AND 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. [Full text] [PDF]  

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. [Abstract] [Full text] [PDF]  

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. [Abstract] [Full text] [PDF]  

RESIDENT AND FELLOW SECTION
Teaching NeuroImage: Cerebrotendinous xanthomatosis
Brijesh P. Mehta and Robert H. Shmerling
Neurology 2008; 71: e4. [Full text] [PDF]  

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. [Abstract] [Full text] [PDF]  

ARTICLES
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease
P. Laforêt, P. Petiot, M. Nicolino, D. Orlikowski, C. Caillaud, N. Pellegrini, R. Froissart, T. Petitjean, I. Maire, H. Chabriat, L. Hadrane, D. Annane, and B. Eymard
Neurology 2008; 70: 2063-2066. [Abstract] [Full text] [PDF]  

ARTICLES
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
A. McNeill, D. Birchall, S. J. Hayflick, A. Gregory, J. F. Schenk, E. A. Zimmerman, H. Shang, H. Miyajima, and P. F. Chinnery
Neurology 2008; 70: 1614-1619. [Abstract] [Full text] [PDF]  

ARTICLES
Homoplasmy, heteroplasmy, and mitochondrial dystonia
R. McFarland, P. F. Chinnery, E. L. Blakely, A. M. Schaefer, A.A.M. Morris, S. M. Foster, H. A.L. Tuppen, V. Ramesh, P. J. Dorman, D. M. Turnbull, and R. W. Taylor
Neurology 2007; 69: 911-916. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
TOXOCARIASIS OF THE CNS SIMULATING ACUTE DISSEMINATED ENCEPHALOMYELITIS
C. Marx, J. Lin, M. R. Masruha, M. G. Rodrigues, A. J. da Rocha, L.C.P. Vilanova, and A. A. Gabbai
Neurology 2007; 69: 806-807. [Full text] [PDF]  

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* Related collections:
 Medical/Systemic disease
 All Medical/Systemic disease
 Electrolyte
 Endocrine
 Gastrointestinal
 Hematologic
 Nutritional
 Hypoglycemia
 Metabolic disease (inherited)
 Amino acid
 Leukodystrophies
 Lipidoses
 Organic acid
 Peroxisomes
 Glycogenoses


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