Results 11 to 20 of about 107,475 (169)
Diagnosis and Treatment of Sepiapterin Reductase Deficiency
Pediatric Neurology Briefs, 2006 The diagnosis and long-term effects of treatment of two cases of sepiapterin reductase deficiency (SRD) are reported from Service de Neuropediatrie, CHU Montpellier, France; University de Sherbrooke, Quebec, Canada; and centers in Germany and Switzerland.
J Gordon Millichap
doaj +6 more sources
Sepiapterin Reductase Deficiency: Mimic of Cerebral Palsy
Pediatric Neurology Briefs, 2012 Researchers at University of California at San Diego, and 22 other US national and international centers studied the clinical, biochemical, and molecular findings in a cohort of 38 patients with sepiapterin reductase deficiency (SRD).
J Gordon Millichap
doaj +5 more sources
Dopa-Responsive Motor Disorder with Sepiapterin Reductase Deficiency
Pediatric Neurology Briefs, 2005 The clinical findings in 7 children from Malta, at first suspected to have cerebral palsy and later diagnosed with sepiapterin reductase deficiency, are reported from Great Ormond Street Hospital, London, UK, and St Luke’s Hospital, University of Malta.
J Gordon Millichap
doaj +2 more sources
Detection of Sepiapterin in CSF of Patients with Sepiapterin Reductase Deficiency
Molecular Genetics and Metabolism, 2002 Sepiapterin reductase (SR) deficiency was recently described in patients with a severe biogenic amine deficiency presenting without hyperphenylalaninemia and it was suggested that the tetrahydrobiopterin (BH(4)) pathway may be different in different cells and tissues.
Zorzi, Giovanna +5 more
openaire +4 more sources
Enzymatic Isomerization of Sepiapterin to 6-1'-Hydroxy-2' -oxopropyl 7,8-dihydropterin
Pteridines, 1989 6-1'-Hydroxy-2' -oxopropyl 7,8-dihydropterin, which has been believed to be too labile to actually exist, was produced from sepiapterin (6-lactoyl 7,8-dihydropterin).
Sueoka Terumi, Katoh Setsuko
doaj +2 more sources
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis. [PDF]
Mol Syndromol, 2023 <b><i>Introduction:</i></b> Sepiapterin reductase deficiency (SRD) is an exceedingly rare neurotransmitter disease caused by an enzyme error involved in the synthesis of tetrahydrobiopterin (BH4). It has been described in nearly 60 cases so far.
Engin Erdal A +5 more
europepmc +6 more sources
A murine model for human sepiapterin-reductase deficiency. [PDF]
Am J Hum Genet, 2006 Tetrahydrobiopterin (BH(4)) is an essential cofactor for several enzymes, including all three forms of nitric oxide synthases, the three aromatic hydroxylases, and glyceryl-ether mono-oxygenase. A proper level of BH(4) is, therefore, necessary for the metabolism of phenylalanine and the production of nitric oxide, catecholamines, and serotonin.
Yang S +8 more
europepmc +6 more sources
Pteridines, 2017 Dictyostelium discoideum Ax2 is well-known for the synthesis of d-threo-tetrahydrobiopterin (DH4) with a smaller amount of l-erythro-tetrahydrobiopterin (BH4).
Kim Hye-Lim +2 more
doaj +2 more sources
Functional analysis of sepiapterin reductase in Drosophila melanogaster
Pteridines, 2015 Sepiapterin reductase (SR) is a key enzyme involved in the biosynthesis of tetrahydrobiopterin (BH4), an essential cofactor for the synthesis of important biogenic amines, including catecholamines and serotonin.
Kim Kiyoung, Kim Heuijong, Yim Jeongbin
doaj +2 more sources
6-Acetonylisoxanthopterin: A Potent Inhibitor of Sepiapterin Reductase
Pteridines, 1991 The inhibitory effect of 6-/7-substituted (2'-oxo) pteridines and ichthyopterin was examined for sepiapterin reductase. 6-Acetonylisoxanthopterin and 6-acetonyl-2,4-diamino-7-hydroxypteridine showed pronounced competitive inhibitory effects to ...
Nakanishi A. +3 more
doaj +2 more sources