Results 111 to 120 of about 553,208 (143)
CoQ<sub>10</sub> oxidoreductases in ferroptosis and cancer: redox regulation and therapeutic opportunities. [PDF]
Exp Mol MedLee J, Yoo I, Kim M, Kim H, Lee N.
europepmc +1 more source
Two Greek siblings with sepiapterin reductase deficiency [PDF]
Molecular Genetics and Metabolism, 2008 BACKGROUND: Sepiapterin reductase (SR) deficiency is a rare inherited disorder of neurotransmitter metabolism; less than 25 cases have been described in the literature so far. METHODS: We describe the clinical history and extensive cerebrospinal fluid (CSF) and urine examination of two Greek siblings with the diagnosis of SR deficiency.
Michel Willemsen +2 more
exaly +8 more sources
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency
Molecular Genetics and Metabolism, 2015 Sepiapterin reductase deficiency (SRD) causes depletion of biogenic amines in the brain, early onset motor disorder, and intellectual disability. The diagnostic marker for this rare disease is increased sepiapterin and biopterin in CSF. Through a new analytic methodology we demonstrated accumulation of sepiapterin in urine of four SRD patients several ...
Elisabetta Pasquini +2 more
exaly +6 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.
Giovanna Zorzi, Beat Thöny, Nenad Blau
exaly +5 more sources
Some of the next articles are maybe not open access.
Sepiapterin reductase deficiency: Report of 5 new cases
European Journal of Paediatric Neurology, 2017Sepiapterin reductase deficiency is a rare, under-recognized, autosomal recessively inherited disorder of neurotransmitter metabolism.Five new patients from 3 unrelated Saudi consanguineous families are reported. Symptoms began at 6 months, with delay to diagnosis averaging 8 years.
Brahim Tabarki, Saad Alshahwan
exaly +3 more sources
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy
Annals of Neurology, 2012AbstractObjective:Sepiapterin reductase deficiency (SRD) is an under‐recognized levodopa‐responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. We aim to improve awareness of the phenotype and available diagnostic and therapeutic strategies to reduce delayed diagnosis or ...
Jennifer Friedman +2 more
exaly +5 more sources
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
Molecular Genetics and Metabolism, 2006The diagnosis of a 14-year-old girl with a new homoallelic mutation in the sepiapterin reductase (SR) gene is reported. Initially she presented at the age of 2 with hypotonia and mild cognitive developmental delay, and was diagnosed as having mild methylmalonic aciduria, which was recently identified as methylmalonylCoA racemase deficiency, a new ...
Jan Booij +2 more
exaly +4 more sources
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
Acta Neurologica Scandinavica, 2014 OBJECTIVES: Sepiapterin reductase deficiency is a rare, but treatable inherited disorder of tetrahydrobiopterin and neurotransmitter metabolism. This disorder is most probably underdiagnosed.
Jeanette Koht, C M E Tallaksen
exaly +2 more sources
Very early pattern of movement disorders in sepiapterin reductase deficiency
Neurology, 2013Sepiapterin reductase deficiency (SRD; Online Mendelian Inheritance in Man *182125) is a rare disorder of biogenic amines synthesis caused by mutations of the SPR gene on chromosome 2p14-p12.1 The most common presenting symptoms of SRD are developmental delay and axial hypotonia.2 The few patients observed during the very early stage of the disease ...
LEUZZI, Vincenzo +5 more
openaire +2 more sources
Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy
Pediatric Neurology, 2006Sepiapterin reductase deficiency has recently been recognized as a treatable, inborn error of pterin metabolism. This investigation is the first long-term clinical study demonstrating impressive positive, long-term effects of treatment in two cases of sepiapterin reductase deficiency after 2 and 5 years of treatment respectively.
Bernard, Echenne +7 more
openaire +2 more sources