1. P. Laforet, C. Acquaviva-Bourdain, O. Rigal, M. Brivet, I. Penisson-Besnier, B. Chabrol, D. Chaigne, O. Boespflug-Tanguy, C. Laroche, A. L. Bedat-Millet, A. Behin, I. Delevaux, A. Lombes, B. S. Andresen, B. Eymard, and C. Vianey-Saban. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord, 19(5):324-9, 2009. Note: Journal ArticleEnglandNmd. [WWW] Keyword(s): Acyl-CoA Dehydrogenase, Long-Chain/*genetics, Adolescent, Adult, Biological Markers/analysis/blood, Carnitine/analogs & derivatives/analysis/blood, Cells, Cultured, Child, DNA Mutational Analysis, Exercise Tolerance/genetics, Female, Genetic Screening, Genotype, Heterozygote, Homozygote, Humans, Male, Metabolism, Inborn Errors/diagnosis/enzymology/genetics, Middle Aged, Mitochondrial Diseases/*diagnosis/*enzymology/genetics, Muscle Weakness/enzymology/genetics/physiopathology, Muscular Diseases/*diagnosis/*enzymology/genetics, Mutation/genetics, Rhabdomyolysis/enzymology/genetics/physiopathology, Young Adult.



2. E. Maillart, C. Acquaviva-Bourdain, O. Rigal, M. Brivet, C. Jardel, A. Lombes, B. Eymard, C. Vianey-Saban, and P. Laforet. [Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]. Rev Neurol (Paris), 2009. Note: Journal article. [WWW]



3. H. Pagniez-Mammeri, A. Lombes, M. Brivet, H. Ogier-de Baulny, P. Landrieu, A. Legrand, and A. Slama. Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects. Mol Genet Metab, 96(4):196-200, 2009. Note: Journal ArticleUnited States. [WWW] Keyword(s): Cell Nucleus/*genetics, Child, Preschool, DNA, Complementary/genetics, Deoxyribonucleases/metabolism, Electron Transport Complex I/*deficiency/*genetics, *Genetic Screening, Humans, Mutation/*genetics, Oxidation-Reduction, Pyruvic Acid/metabolism.



4. 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.

This material is presented to ensure timely dissemination of scholarly and technical work. Copyright and all rights therein are retained by authors or by other copyright holders. All person copying this information are expected to adhere to the terms and constraints invoked by each author's copyright. In most cases, these works may not be reposted without the explicit permission of the copyright holder.

Les documents contenus dans ces répertoires sont rendus disponibles par les auteurs qui y ont contribué en vue d'assurer la diffusion à temps de travaux savants et techniques sur une base non-commerciale. Les droits de copie et autres droits sont gardés par les auteurs et par les détenteurs du copyright, en dépit du fait qu'ils présentent ici leurs travaux sous forme électronique. Les personnes copiant ces informations doivent adhérer aux termes et contraintes couverts par le copyright de chaque auteur. Ces travaux ne peuvent pas être rendus disponibles ailleurs sans la permission explicite du détenteur du copyright.

This document was translated from BibT_EX by bibtex2html