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Neurology
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Metabolic disease (inherited)

Citations 111-116 of 116 total displayed.

Past content (since Jul 2001):

ARTICLES
Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis
T. Lönnqvist, S. L. Vanhanen, K. Vettenranta, T. Autti, J. Rapola, P. Santavuori, and U.M. Saarinen–Pihkala
Neurology 2001; 57: 1411-1416. [Abstract] [Full text] [PDF]  

ARTICLES
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
M. Jaksch, R. Horvath, N. Horn, D. P. Auer, C. Macmillan, J. Peters, K.–D. Gerbitz, I. Kraegeloh–Mann, A. Muntau, V. Karcagi, R. Kalmanchey, H. Lochmuller, E. A. Shoubridge, and P. Freisinger
Neurology 2001; 57: 1440-1446. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Fish oil supplementation improves visual evoked potentials in children with phenylketonuria
S. Beblo, H. Reinhardt, A. C. Muntau, W. Mueller–Felber, A. A. Roscher, and B. Koletzko
Neurology 2001; 57: 1488-1491. [Abstract] [Full text] [PDF]  

ARTICLES
Unverricht–Lundborg disease in a five-generation Arab family: Instability of dodecamer repeats
A. Mazarib, L. Xiong, M.Y. Neufeld, M. Birnbaum, A.D. Korczyn, M. Pandolfo, and S.F. Berkovic
Neurology 2001; 57: 1050-1054. [Abstract] [Full text] [PDF]  

VIEWS & REVIEWS
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses
Krystyna E. Wisniewski, Nanbert Zhong, and Michel Philippart
Neurology 2001; 57: 576-581. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease
David Riley, Max Wiznitzer, Stuart Schwartz, and Arthur B. Zinn
Neurology 2001; 57: 141-143. [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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