Skip to main content

8 Result(s)

within N. Venizelos Remove this filter

and

  1. Article

    Open Access

    Clozapine but not lithium reverses aberrant tyrosine uptake in patients with bipolar disorder

    Availability of the dopamine and noradrenaline precursor tyrosine is critical for normal functioning, and deficit in tyrosine transport across cell membrane and the blood-brain barrier has been reported in bip...

    R Tabrisi, MD Harun-Rashid, J Montero, N Venizelos, M Msghina in Psychopharmacology (2023)

    Download PDF (776 KB) View Article

  2. No Access

    Article

    Fatty acid oxidation in fibroblasts from patients with defects in β-oxidation and in the respiratory chain

    Fatty acid oxidation has been studied with the tritium release assay in cultured fibroblasts from patients with defects in β-oxidation and in the mitochondrial respiratory chain. Cells from all patients with β...

    N. Venizelos, U. von Döbeln, L. Hagenfeldt in Journal of Inherited Metabolic Disease (1998)

  3. No Access

    Article

    Detection of defective 3β-hydroxysterol Δ7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome

    Patients with the autosomal recessive disorder Smith-Lemli-Opitz syndrome (SLO) have recently been shown to have markedly increased tissue levels of certain cholesterol biosynthesis intermediates, most notably...

    E. Lund, L. Starck, N. Venizelos in Journal of Inherited Metabolic Disease (1996)

  4. No Access

    Article

    Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

    L. Hagenfeldt, N. Venizelos, U. von Döbeln in Journal of Inherited Metabolic Disease (1995)

  5. No Access

    Article

    Characterization of muscarinic acetylcholine receptors in cultured adult skin fibroblasts: Effects of the swedish Alzheimer's disease APP 670/671 mutation on binding levels

    We have characterised the muscarinic receptor subtypes found in human skin fibroblasts and compared binding levels in cell lines from members of the Alzheimer's disease family with the Swedish amyloid precurso...

    M. Vestling, R. F. Cowburn, N. Venizelos… in Journal of Neural Transmission - Parkinson… (1995)

  6. No Access

    Article

    Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency

    Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency was performed by analysis of the enzyme activity in a chorionic villus biopsy obtained in the 10th week of pregnancy. The diagnosis w...

    U. von Döbeln, N. Venizelos, M. Westgren… in Journal of Inherited Metabolic Disease (1994)

  7. No Access

    Article

    Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samples

    Five patients with 3-hydroxydicarboxylic aciduria have been investigated. Two of them had elder siblings who had died unexpectedly in early infancy. Stored filter paper blood samples obtained from the patients...

    U. von Döbeln, N. Venizelos, L. Hagenfeldt in Journal of Inherited Metabolic Disease (1990)

  8. No Access

    Article

    N-acetylaspartic aciduria due to aspartoacylase deficiency — a new aetiology of childhood leukodystrophy

    We describe a male infant with psychomotor retardation and leukodystrophy who excretes large quantities ofN-acetylaspartate in his urine. A high CSF/plasma concentration ratio ofN-acetylaspartate indicates that t...

    L. Hagenfeldt, I. Bollgren, N. Venizelos in Journal of Inherited Metabolic Disease (1987)