全部文献期刊会议图书|学者科研项目
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作者:Frédéric Sedel , Catherine Lubetzki
来源:[J].Journal of the Neurological Sciences(IF 2.243), 2018
摘要:Abstract(#br)Objective(#br)To describe the phenotype and the response to folinic acid supplementation of cerebral folate deficiency (CFD) in adults, a disorder diagnosed on low 5-methyltetrahydro-folate (5MTHF) in cerebrospinal fluid (CSF), which can correspond to a inherite...
作者:Frédéric Sedel , Delphine Bernard ...
来源:[J].Neuropharmacology(IF 4.114), 2016, Vol.110, pp.644-653
摘要:Abstract(#br)Progressive multiple sclerosis (MS) is a severely disabling neurological condition, and an effective treatment is urgently needed. Recently, high-dose biotin has emerged as a promising therapy for affected individuals. Initial clinical data have shown that daily...
作者:Frédéric Sedel , Dominique Thabut
来源:[J].Journal of Hepatology(IF 9.858), 2016, Vol.65 (6), pp.1120-1130
摘要:Background & Aims(#br)Hepatic encephalopathy (HE) is a neurological complication observed in patients with liver disease and/or porto-systemic shunt. The proportion of cirrhotic patients developing overt HE is about 20%, and 60–80% of cirrhotic patients exhibit mild cognitiv...
作者:... Delphine Heron , Frédéric Sedel , Anne Lombès
来源:[J].Mitochondrion(IF 4.025), 2014, Vol.15, pp.34-39
摘要:Abstract(#br)We describe four patients from three independent families with the m.1644G > A in the MT-TV gene, previously reported without demonstration of its deleterious impact.(#br)Very high mutation proportion co-segregated with cytochrome oxidase defect in single muscle fibe...
作者:Frédéric Sedel , Fanny Mochel
来源:[J].Journal of the Neurological Sciences(IF 2.243), 2013, Vol.324 (1-2), pp.179-182
摘要:Abstract(#br)Adult polyglucosan body disease (APBD) is a metabolic disorder usually caused by glycogen branching enzyme (GBE) deficiency. APBD associates progressive walking difficulties, bladder dysfunction and, in about 50% of the cases, cognitive decline. APBD is characterized...
作者:... Zahir Amoura , Frédéric Sedel , David Cohen
来源:[J].Progress in Neuropsychopharmacology & Biological Psychiatry(IF 3.552), 2008, Vol.32 (6), pp.1393-1398
摘要:Abstract(#br)Catatonia is an infrequent but severe condition in young people. Organic diseases may be associated and need to be investigated though no specific recommendations and guidelines are available.(#br)We extensively reviewed the literature of all the cases of organi...
作者:Frédéric Sedel , Catherine Caillaud ...
来源:[J].Brain and Development(IF 1.668), 2010, Vol.33 (2), pp.131-139
摘要:Abstract(#br)Objective(#br)To describe the clinical presentation of 10 patients with type 3 Gaucher disease and the clinical evolution of nine of them following specific therapy regimes. Methods: The follow-up of these 10 patients was between 2 and 15 years. The clinical his...
作者:Frédéric Sedel , Meral Topçu ...
来源:[J].Molecular Genetics and Metabolism(IF 2.834), 2009, Vol.98 (1), pp.152-165
摘要:Abstract(#br)Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. It is characterized clinically by a variety of progressiv...
作者:... Nicole Baumann , Marie T. Vanier , Frédéric Sedel
来源:[J].Molecular Genetics and Metabolism(IF 2.834), 2008, Vol.96 (2), pp.55-58
摘要:Abstract(#br)Niemann-Pick C (NPC) is a fatal progressive neurolipidosis. Miglustat, an inhibitor of glycosphingolipid synthesis, has been proposed to treat patients but questions remain regarding its efficacy. A major problem has been the lack of suitable objective efficacy endpo...

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