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Neurology
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Metabolic disease (inherited)

Citations 81-90 of 116 total displayed.

Past content (since Jul 2001):

ARTICLES
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival
P. G. Barth, C. B.L.M. Majoie, J. Gootjes, R. J.A. Wanders, H. R. Waterham, M. S. van der Knaap, J. B.C. de Klerk, J. Smeitink, and B. T. Poll-The
Neurology 2004; 62: 439-444. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Skin biopsy in Lafora disease: Genotype–phenotype correlations and diagnostic pitfalls
D. M. Andrade, C. A. Ackerley, T. S.C. Minett, H. A.G. Teive, S. Bohlega, S. W. Scherer, and B. A. Minassian
Neurology 2003; 61: 1611-1614. [Abstract] [Full text] [PDF]  

NEUROIMAGES
The "double panda sign" in Wilson’s disease
Dina A. Jacobs, Clyde E. Markowitz, David S. Liebeskind, and Steven L. Galetta
Neurology 2003; 61: 969. [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene
A. G. Bassuk, A. Joshi, B. K. Burton, M. B. Larsen, D. M. Burrowes, and C. Stack
Neurology 2003; 61: 1014. [Full text] [PDF]  

BRIEF COMMUNICATIONS
Adult polyglucosan body disease: A postmortem correlation study
E. Sindern, F. Ziemssen, T. Ziemssen, T. Podskarbi, Y. Shin, F. Brasch, K. M. Müller, J. M. Schröder, J.-P. Malin, and M. Vorgerd
Neurology 2003; 61: 263-265. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Canavan’s leukodystrophy is associated with defects in cochlear neurodevelopment and deafness
Gail Ishiyama, Ivan Lopez, Robert W. Baloh, and Akira Ishiyama
Neurology 2003; 60: 1702-1704. [Abstract] [Full text] [PDF]  

VIEWS & REVIEWS
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
P. L. Pearl, K. M. Gibson, M. T. Acosta, L. G. Vezina, W. H. Theodore, M. A. Rogawski, E. J. Novotny, A. Gropman, J. A. Conry, G. T. Berry, and M. Tuchman
Neurology 2003; 60: 1413-1417. [Abstract] [Full text] [PDF]  

ARTICLES
MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy
A. Fatemi, P.B. Barker, A.M. Ulug, L.M. Nagae-Poetscher, N.J. Beauchamp, A.B. Moser, G.V. Raymond, H.W. Moser, and S. Naidu
Neurology 2003; 60: 1301-1307. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Efficacy of levetiracetam in a patient with Unverricht-Lundborg progressive myoclonic epilepsy
P. Kinrions, N. Ibrahim, K. Murphy, A.-E. Lehesjoki, I. Järvela, and N. Delanty
Neurology 2003; 60: 1394-1395. [Full text] [PDF]  

NEUROIMAGES
Clinical diagnosis of Fabry disease: Whorl-like corneal opacity
Hideto Yoshikawa and Izumi Ogawa
Neurology 2003; 60: 1048. [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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