Results 141 to 150 of about 26,569 (299)

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients [PDF]

, 2018
Phenylketonuria (PKU, MIM 261600) is an autosomal recessive disorder caused by mutations of the phenylalanine hydroxylase gene (PAH, GenBank U49897.1, RefSeq NM_000277). To date more than 560 variants of the PAH gene have been identified. In Europe there
Brunner-Krainz, Michaela, Karall, Daniela, Konstantopoulou, Vassiliki, Lagler, Florian, Möslinger, Dorothea, Paschke, Eduard, Paul, Karl, Plecko, Barbara, Scholl-Bürgi, Sabine, Sperl, Wolfgang, Sterl, Elisabeth, Windisch, Eva, Zschocke, Johannes   +12 more
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Linoleic acid-induced endothelial activation

Journal of Lipid Research, 2004
Hypertriglyceridemia, an important risk factor of atherosclerosis, is associated with increased circulating free fatty acids. Research to date indicates that linoleic acid (LA), the major fatty acid in the American diet, may be atherogenic by activating ...
Viswanathan Saraswathi, Guoyao Wu, Michal Toborek, Bernhard Hennig   +3 more
doaj  

Immune activation and inflammation in patients with cardiovascular disease are associated with elevated phenylalanine-to-tyrosine ratios

Pteridines, 2013
Higher serum neopterin concentrations and kynurenine-to-tryptophan (Kyn/Trp) ratios are associated with increased mortality in patients with coronary artery disease (CAD). Preferentially, Th1-type cytokine interferon-γ stimulates tryptophan breakdown and
Mangge Harald, Schnedl Wolfgang J., Schröcksnadel Sebastian, Geisler Simon, Murr Christian, Fuchs Dietmar   +5 more
doaj   +1 more source

Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency [PDF]

, 2018
Summary: The oral loading test with tetrahydrobiopterin (BH4) is used to discriminate between variants of hyperphenylalaninaemia and to detect BH4-responsive patients.
Blau, N., Demirkol, M., Fiege, B., Fiori, L., Giovannini, M., Gärtner, K., Ozen, I., Thöny, B., Zurflüh, M.   +8 more
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6R-L-erythro-5,6,7,8-Tetrahydrobiopterin and Dopamine Release

Pteridines, 1995
We previously reported that intracerebroventricular administration of 6R-L-erythro-5,6,7,8-tetrahydrobiopterin (6R-BJL), a cofactor for aromatic amino acid hydroxylases and nitric oxide synthase, induces an increase in DOPA levels (as an index of DA ...
Miwa Soichi, Koshimura Kunio
doaj   +1 more source

Statin Increases GTP Cyclohydrolase I mRNA and 5,6,7,8-Tetrahydrobiopterin in Vascular Endothelial Cells

Pteridines, 2006
We investigated the effects of HMG-CoA reductase inhibitors, so-called statins, on 5,6,7,8-tctrahydrobioptcrin (BH4) metabolism in human umbilical vein endothelial cells (HUVEC).
Hattori Yoshiyuki, Nakanishi Nobuo
doaj   +1 more source

Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. [PDF]

, 1993
Irma Dianzani, David W. Howells, A Ponzone, Jennifer A. Saleeba, Peter M. Smooker, Richard G.H. Cotton   +5 more
openalex   +1 more source

Tetrahydrobiopterin-dependent formation of nitrite and nitrate in murine fibroblasts. [PDF]

, 1990
Gabriele Werner‐Felmayer, Ernst R. Werner, Dietmar Fuchs, Arno Hausen, Gilbert Reibnegger, H. Wächter   +5 more
openalex   +1 more source

Catalytic Activity of Tetrahydrobiopterin in Dihydropteridine Reductase Deficiency and Indications for Treatment [PDF]

, 1993
A Ponzone, Ornella Guardamagna, Irma Dianzani, Riccardo Ponzone, Giovanni Battista Ferrero, Marco Spada, Richard G.H. Cotton   +6 more
openalex   +1 more source

Effect of congenital reduced GCH1-function on sensitized and unsensitized pain [PDF]

, 2011
Hintergrund: Träger eines bestimmten Haplotyps des Gens der GTP Cyclohydrolase (GCH1) gaben im Anschluss an eine Diskektomie nach chronischer lumbaler Radikulopathie weniger Schmerzen an und hatten in experimentellen Schmerzmessungen höhere ...
Adolph, Jan
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