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Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults
SummaryInborn errors of metabolism (IEMs) may present in adolescence or adulthood as a psychiatric disorder. In some instances, an IEM is suspected because of informative family history or becauseExpand
Variable number tandem repeat dopamine transporter gene polymorphism and Parkinson’s disease: no association found
Abstract.We studied a variable number of tandem repeat polymorphisms in the dopamine transporter gene in search of an association with Parkinson’s disease in a French population. Five alleles wereExpand
Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families.
The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restrictionExpand
Neurochemistry of Stress. An Overview
Stress is a word that is used very commonly. It is generally employed to design unpleasant phenomena, although it is related to a function necessary to our life. Stress in itself is not a disease.Expand
High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
We identified a patient suffering from late-infantile metachromatic leukodystrophy (MLD) who has a residual arylsulfatase A (ARSA) activity of about 10%. Fibroblasts of the patient show significantExpand
DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease
Andrew S, Theilmann J, Almqvist E, Norremolle A, Lucotte G, Anvret M, Sorensen SA, Turpin JC, Hayden MR. DNA analysis of distinct populations suggests multiple origins for the mutation causingExpand
Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?
Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is biochemically characterized by an accumulation of sulfatides (sulfogalactosylceramides) mainly in oligodendrocytes andExpand
Metachromatic leukodystrophy. Ultrastructural and enzymatic study of a case of variant O form.
A variant of metachromatic leukodystrophy (MLD), Austin disease, is characterized by a multiple isozyme deficiency of arylsulfatase. A 3 1/2-year-old girl with progressive mental and physicalExpand
A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.
A transthyretin (TTR) mutation is described in a 44 year old French woman from Caen who presented at the age of 40 with neuropathy in all four extremities, diarrhoea, and orthostatic hypotension. HerExpand