Results 21 to 30 of about 6,578 (240)
Dystonia and Biopterin Deficiency
Five patients with childhood dystonia associated with reduced CSF biopterin, responsive to levodopa, and characterized by diurnal and exertional variation are reported from the Developmental and Metabolic Neurology Branch, National Institute of ...
J Gordon Millichap
doaj +3 more sources
Immune Stimulation of Interferon-Gamma- and Biopterin Synthesis with Endotoxin in Animal-Experimental Peritonitis [PDF]
As a result to a microhial stimulus different defence systems are activated. Bacterial lipopolysaccharids (endotoxins) can lead to activation of the immune system in which phagocytic cells like macrophages.
Kullich W. +3 more
doaj +2 more sources
Tetrahydrobiopterin, responsive, hyperphenylalaninemia without biopterin defiCIency
Hyperphenylalaninemia (HPA) results from a deficiency of the enzyme phenylalanine hydroxylase (PAH) or of its cofactor, tetrahydrobiopterin (BH4). In 1999, Kure et al reported that some patients with PAH deficiency showed lowering of blood Phe levels after BH4 loading (1). We found several patients with HPA whose serum phenylalanine levels decreased at
Shintaku Haruo +3 more
doaj +2 more sources
Biopterin-Responsive Hyperphenylalaninemia
Seymour Kaufman
openaire +4 more sources
Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease [PDF]
Uçar T +7 more
europepmc +2 more sources
Radioimmunoassay for biopterin.
Toshiharu NAGATSU +9 more
openaire +4 more sources
Mutationen im PTS-Gen und mögliche Auswirkungen auf Funktion und Struktur der 6-Pyruvoyl-Tetrahydropterin-Synthase [PDF]
Background: Research on Juvenile Idiopathic Arthritis (JIA) should support patients, caregivers/parents (carers) and clinicians to make important decisions in the consulting room and eventually to improve the lives of patients with JIA.
Preuße, Friedrich-Alexander +1 more
core +9 more sources
Biopterin responsive phenylalanine hydroxylase deficiency [PDF]
Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene. There have been more than 400 mutations identified in the PAH gene leading to variable degrees of deficiency in PAH activity, and consequently a wide spectrum of clinical severity.
Reuben, Matalon +11 more
openaire +2 more sources
Treatment of L-biopterin (I) with N,N-dimethyformamide dimethyl- (or diethyl)acetal and then with acetic anhydride in pyridine gave 1',2'-di-O-acetyl-N'-(N,N-dimethylaminomethylene)-L-biopterin (4), which was converted by the Mitsunobu reaction into 3 ...
Hanaya Tadashi +5 more
doaj +1 more source

