1. D. Galanaud, A. Tourbah, S. Lehericy, N. Leveque, B. Heron, T. Billette de Villemeur, N. Guffon, F. Feillet, N. Baumann, M. T. Vanier, and F. Sedel. 24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy. Mol Genet Metab, 96(2):55-8, 2009. Note: Journal ArticleUnited States. [WWW] Keyword(s): 1-Deoxynojirimycin/*analogs & derivatives/therapeutic use, Adult, Brain/*metabolism/pathology, Choline/metabolism, Cohort Studies, Creatine/metabolism, Female, Humans, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy/*methods, Male, Niemann-Pick Disease, Type C/*drug therapy, Treatment Outcome.



2. F. Sedel, A. Tourbah, B. Fontaine, C. Lubetzki, N. Baumann, J. M. Saudubray, and O. Lyon-Caen. Leukoencephalopathies associated with inborn errors of metabolism in adults. J Inherit Metab Dis, 31(3):295-307, 2008. Note: Journal ArticleNetherlands. [WWW]



3. P. Cherin, F. Sedel, C. Mignot, M. Schupbach, I. Gourfinkel-An, M. Verny, and N. Baumann. [Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?]. Rev Neurol (Paris), 162(11):1076-83, 2006. Note: English AbstractJournal ArticleFrance. [WWW] Keyword(s): Adult, Age of Onset, Aged, Female, Gaucher Disease/*classification/*physiopathology, Glucosylceramidase/metabolism, Humans, Male, Middle Aged, Nervous System/*physiopathology, Parkinsonian Disorders/classification/complications, Phenotype, Reflex, Abnormal, Tremor/complications.



4. H. Rauschka, B. Colsch, N. Baumann, R. Wevers, M. Schmidbauer, M. Krammer, J. C. Turpin, M. Lefevre, C. Olivier, S. Tardieu, W. Krivit, H. Moser, A. Moser, V. Gieselmann, B. Zalc, T. Cox, U. Reuner, A. Tylki-Szymanska, F. Aboul-Enein, E. LeGuern, H. Bernheimer, and J. Berger. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. Neurology, 67(5):859-63, 2006. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Cerebroside-Sulfatase/*genetics/metabolism, Child, Electroencephalography/methods, Female, Genotype, Humans, Isoleucine/genetics, Leucine/genetics, Leukodystrophy, Metachromatic/*genetics/physiopathology, Magnetic Resonance Imaging/methods, Male, Mutation, Neural Conduction/genetics/physiology, *Phenotype, Proline/genetics, Statistics, Nonparametric.



5. F. Sedel, A. Tourbah, N. Baumann, B. Fontaine, P. Aubourg, C. Lubetzki, and O. Lyon-Caen. [Adult onset hereditary leukoencephalopathies]. Rev Neurol (Paris), 161(10):916-31, 2005. Note: English AbstractJournal ArticleReviewFrance. [WWW] Keyword(s): Age of Onset, Brain Diseases/diagnosis/*genetics/*metabolism, Demyelinating Diseases/diagnosis/*genetics/*metabolism, Humans, Mutation.

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