Results 121 to 130 of about 107,475 (169)

Nitrogen-containing FDA-approved drugs in 2025: synthesis, significance and therapeutic applications. [PDF]

RSC Adv
Jadala C, Mishra S, Potuganti GR, Cardoza S, Velma GR.   +4 more
europepmc   +1 more source

Clinical Assessment of Breast Cancer Resistance Protein (BCRP)-Mediated Drug-Drug Interactions of Sepiapterin with Curcumin and Rosuvastatin in Healthy Volunteers. [PDF]

Drugs R D
Gao L, Kaushik D, Ingalls K, Milner S, Smith N, Kong R.   +5 more
europepmc   +1 more source

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency
openaire   +1 more source

Symposium 5. [PDF]

Exp Anim
europepmc   +1 more source

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, Francesca Nardecchia, Jennifer Friedman   +2 more
exaly   +6 more sources

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, Beat Thöny, Dimitrios I. Zafeiriou   +2 more
exaly   +8 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

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Carbonyl reductase activity of sepiapterin reductase from rat erythrocytes

Biochimica Et Biophysica Acta - General Subjects, 1985
A homogeneous preparation of sepiapterin reductase, an enzyme involved in the biosynthesis of tetrahydrobiopterin, from rat erythrocytes was found to be responsible for the reduction with NADPH of various carbonyl compounds of non-pteridine derivatives including some vicinal dicarbonyl compounds which were reported in the previous paper (Katoh, S.
T Sueoka, Setsuko Katoh, S Katoh
exaly   +3 more sources

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

Parkinsonism and Related Disorders, 2012
We report two siblings that presented hypotonia and very early-onset parkinsonism. Homozygosity mapping using SNP genome scan data identified a candidate locus that was 12.2 Mega base pairs.
Ebba Lohmann, Aslıhan Tolun, Haşmet Hanağasi   +2 more
exaly   +2 more sources