Search Results - "Rizzo, W B"

The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene by Rizzo, William B., Carney, Gael, Lin, Zhili

“…Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty…”
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Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G→C splice-site mutation in the ALDH3A2 gene by Auada, M.P., Puzzi, M.B., Cintra, M.L., Steiner, C.E., Alexandrino, F., Sartorato, E.L., Aguiar, T.S., Azulay, R.D., Carney, G., Rizzo, W.B.

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Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene by Hamrock, David J, Marekov, Lyuben N, Laurenzi, Vincenzo De, Rizzo, William B, Rogers, Geraldine R, Steinert, Peter M, Markova, Nelli, Compton, John G

“…Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by mental retardation, spasticity and ichthyosis. SLS patients have a…”
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Sjögren-Larsson syndrome: explaining the skin-brain connection by Rizzo, W B

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Nonalcoholic steatohepatitis: Association of insulin resistance and mitochondrial abnormalities by Sanyal, Arun J., Campbell-Sargent, Carol, Mirshahi, Faridoddin, Rizzo, William B., Contos, Melissa J., Sterling, Richard K., Luketic, Velimir A., Shiffman, Mitchell L., Clore, John N.

“…Background & Aims: The pathogenesis of nonalcoholic steatohepatitis (NASH) is unknown. We tested the hypothesis that NASH is associated with 2 defects: (1)…”
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Dietary erucic acid therapy for X-linked adrenoleukodystrophy by RIZZO, W. B, LESHNER, R. T, ODONE, A, DAMMANN, A. L, CRAFT, D. A, JENSEN, M. E, JENNINGS, S. S, DAVIS, S, JAITLY, R, SGRO, J. A

“…We investigated the biochemical and clinical efficacy of dietary erucic acid (C22:1) therapy for X-linked adrenoleukodystrophy (ALD). In a double-blind…”
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Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts by Rizzo, W B, Craft, D A

“…Sjögren-Larsson syndrome (SLS) is an inherited disorder associated with impaired fatty alcohol oxidation due to deficient activity of fatty alcohol:NAD+…”
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Involvement of microsomal fatty aldehyde dehydrogenase in the α-oxidation of phytanic acid by Verhoeven, N.M., Jakobs, C., Carney, G., Somers, M.P., Wanders, R.J.A., Rizzo, W.B.

“…We investigated the role of microsomal fatty aldehyde dehydrogenase (FALDH) in the conversion of pristanal into pristanic acid. Cultured skin fibroblasts from…”
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Unusual Clinical Presentation in Two Cases of Multiple Sulfatase Deficiency by Blanco‐Aguirre, M. E., Kofman‐Alfaro, S. H., Rivera‐Vega, M. R., Medina, C., Valdes‐Flores, M., Rizzo, W. B., Cuevas‐Covarrubias, S. A.

“…Multiple sulfatase deficiency (MSD) is an inborn error of metabolism that combines the clinical features of late infantile metachromatic leukodystrophy and…”
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Proton MR Spectroscopy of Sjogren-Larsson's Syndrome by Mano, Toshiyuki, Ono, Jiro, Kaminaga, Tatsuro, Imai, Katsumi, Sakurai, Kosuke, Harada, Koushi, Nagai, Toshisaburo, Rizzo, William B, Okada, Shintaro

“…We performed single-voxel proton MR spectroscopy (1H-MRS) in two children with Sjögren-Larsson's syndrome (SLS). Both patients showed two abnormal spectral…”
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Changes in phosphatidylcholine fatty acid composition are associated with altered skeletal muscle insulin responsiveness in normal man by CLORE, J. N, HARRIS, P. A, JING LI, AZZAM, A, GILL, R, ZUELZER, W, RIZZO, W. B, BLACKARDT, W. G

“…The fatty acid composition of skeletal muscle cell membrane phospholipids (PLs) is known to influence insulin responsiveness in man. We have recently shown…”
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Sjögren-Larsson syndrome: impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity by RIZZO, W. B, DAMMANN, A. L, CRAFT, D. A

“…Lipid metabolism was studied in cultured skin fibroblasts from patients with the inherited disorder, Sjögren-Larsson syndrome (SLS). Intact SLS fibroblasts…”
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Genomic Organization and Expression of the Human Fatty Aldehyde Dehydrogenase Gene (FALDH) by Rogers, Geraldine R., Markova, Nedialka G., De Laurenzi, Vincenzo, Rizzo, William B., Compton, John G.

“…Mutations in the fatty aldehyde dehydrogenase (FALDH) gene cause Sjögren-Larsson syndrome (SLS)—a disease characterized by mental retardation, spasticity, and…”
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Effects of fructose and troglitazone on phospholipid fatty acid composition in rat skeletal muscle by Clore, John N., Li, Jing, Rizzo, William B.

“…Skeletal muscle phospholipid fatty acid (PLFA) composition is associated with insulin sensitivity in animal models and in man. However, it is not clear whether…”
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Fatty alcohol metabolism in cultured human fibroblasts. Evidence for a fatty alcohol cycle by Rizzo, W B, Craft, D A, Dammann, A L, Phillips, M W

“…Intact cultured human fibroblasts reduced [1-14C]palmitate to radioactive hexadecanol in a concentration-dependent manner. In the presence of 30 microM…”
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Unsuccessful dietary treatment of Sjögren-Larsson syndrome by Maaswinkel-Mooij, P.D., Brouwer, O.F., Rizzo, W.B.

“…We treated five children with Sjögren-Larsson syndrome. The patients, 5 months to 8 years of age, were given a low fat diet supplemented with medium-chain…”
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Cysteamine therapy for children with nephropathic cystinosis by Gahl, W A, Reed, G F, Thoene, J G, Schulman, J D, Rizzo, W B, Jonas, A J, Denman, D W, Schlesselman, J J, Corden, B J, Schneider, J A

“…We treated 93 children with nephropathic cystinosis with oral cysteamine (mean dose, 51.3 mg per kilogram of body weight per day) for up to 73 months. This…”
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Plasma and muscle free carnitine deficiency due to renal fanconi syndrome by BERNARDINI, I, RIZZO, W. B, DALAKAS, M, BERNAR, J, GAHL, W. A

“…Plasma and urine free and acyl carnitine were measured in 19 children with nephropathic cystinosis and renal Fanconi syndrome. Each patient exhibited a…”
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Mutants in a macrophage-like cell line are defective in plasmalogen biosynthesis, but contain functional peroxisomes by Zoeller, R A, Rangaswamy, S, Herscovitz, H, Rizzo, W B, Hajra, A K, Das, A K, Moser, H W, Moser, A, Lazarow, P B, Santos, M J

“…We have used a fluorescence-activated cytotoxicity protocol, 9-(1'-pyrene)nonanol (P9OH)/UV selection (Morand, O. H., Allen, L.-A. H., Zoeller, R. A., and…”
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Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle by Rizzo, W B, Dammann, A L, Craft, D A, Black, S H, Tilton, A H, Africk, D, Chaves-Carballo, E, Holmgren, G, Jagell, S

“…We investigated fatty alcohol metabolism in eight patients with Sjögren-Larsson syndrome, and in nine obligate heterozygotes. Fatty alcohol:…”
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