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Neurology
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Metabolic disease (inherited)

Citations 31-40 of 116 total displayed.

Past content (since Jul 2001):

ARTICLES
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata
A. M. Bams-Mengerink, C. B.L.M. Majoie, M. Duran, R.J.A. Wanders, J. Van Hove, C. D. Scheurer, P. G. Barth, and B. T. Poll-The
Neurology 2006; 66: 798-803. [Abstract] [Full text] [PDF]  

ARTICLES
Clinical correlates of cerebral water diffusion in Wilson disease
P. Favrole, H. Chabriat, J. P. Guichard, and F. Woimant
Neurology 2006; 66: 384-389. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy
M. Linnebank, S. Kemp, R.J.A. Wanders, W. J. Kleijer, M. L.T. van der Sterre, J. Gärtner, K. Fliessbach, A. Semmler, P. Sokolowski, W. Köhler, U. Schlegel, S. Schmidt, T. Klockgether, and U. Wüllner
Neurology 2006; 66: 442-443. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Substrate reduction therapy in the infantile form of Tay-Sachs disease
B. Bembi, F. Marchetti, V. I. Guerci, G. Ciana, R. Addobbati, D. Grasso, R. Barone, R. Cariati, L. Fernandez-Guillen, T. Butters, and M. G. Pittis
Neurology 2006; 66: 278-280. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency
A. Schroers, R. A. Kley, A. Stachon, R. Horvath, H. Lochmüller, J. Zange, and M. Vorgerd
Neurology 2006; 66: 285-286. [Full text] [PDF]  

RESIDENT AND FELLOW PAGE
Self-mutilation in the Lesch–Nyhan syndrome
Boby Varkey Maramattom
Neurology 2005; 65: E25. [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Saccade testing in the diagnosis and treatment of type 3 Gaucher disease
S. Pensiero, A. Accardo, M. G. Pittis, G. Ciana, B. Bembi, and P. Perissutti
Neurology 2005; 65: 1837. [Full text] [PDF]  

BRIEF COMMUNICATIONS
Mutations in the glucocerebrosidase gene and Parkinson disease: Phenotype–genotype correlation
Judith Aharon-Peretz, Samih Badarny, Hanna Rosenbaum, and Ruth Gershoni-Baruch
Neurology 2005; 65: 1460-1461. [Abstract] [Full text] [PDF]  

EDITORIALS
Does gender parity exist in Fabry disease?
Alan K. Percy and Edward M. Kaye
Neurology 2005; 65: 508-509. [Full text] [PDF]  

BRIEF COMMUNICATIONS
White matter lesion severity in male and female patients with Fabry disease
A. Fellgiebel, M. J. Müller, M. Mazanek, K. Baron, M. Beck, and P. Stoeter
Neurology 2005; 65: 600-602. [Abstract] [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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