1. C. Ewenczyk, A. Leroux, A. Roubergue, V. Laugel, A. Afenjar, J. M. Saudubray, P. Beauvais, T. Billette de Villemeur, M. Vidailhet, and E. Roze. Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum. Brain, 131(Pt 3):760-1, 2008. Note: Journal ArticleEnglanda journal of neurology. [WWW]



2. F. Sedel, G. Challe, J. M. Mayer, A. Boutron, B. Fontaine, J. M. Saudubray, and M. Brivet. Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy. J Neurol Neurosurg Psychiatry, 79(7):846-7, 2008. Note: Case ReportsLetterEngland. [WWW] Keyword(s): Adult, Age Factors, Humans, Male, Optic Nerve Diseases/*etiology, Peripheral Nervous System Diseases/*etiology, Pyruvate Dehydrogenase Complex Deficiency Disease/complications/*drug, therapy, Thiamine/*therapeutic use, Vitamin B Complex/*therapeutic use.



3. F. Sedel, J. M. Saudubray, E. Roze, Y. Agid, and M. Vidailhet. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis, 31(3):308-18, 2008. Note: Journal ArticleReviewNetherlands. [WWW] Keyword(s): Adolescent, Adult, Amino Acids/metabolism, Copper/metabolism, Energy Metabolism, Gangliosidosis, GM1/diagnosis, Humans, Iron/metabolism, Metabolism, Inborn Errors/*diagnosis, Movement Disorders/*diagnosis, Neurotransmitter Agents/biosynthesis.



4. 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]



5. F. Sedel, M. J. Ribeiro, P. Remy, N. Blau, J. M. Saudubray, and Y. Agid. Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia. Neurology, 67(12):2243-5, 2006. Note: Case ReportsJournal ArticleUnited States. [WWW] Keyword(s): 5-Hydroxytryptophan/*therapeutic use, Adult, Antidepressive Agents, Second-Generation/therapeutic use, Dopamine Agents/therapeutic use, Drug Combinations, Dyskinesia, Drug-Induced/*etiology, Dyskinesias, Humans, Levodopa/*therapeutic use, Longitudinal Studies, Male, Phenylketonurias/*diagnosis/*drug therapy, Treatment Outcome.

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