Localization of sepiapterin reductase in the human brain
Localization of sepiapterin reductase in the human brainidentifier:oai:t2r2.star.titech.ac.jp ...
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Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene. [PDF]
Pak J Med Sci, 2019 Froukh T.
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Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? [PDF]
Neurol Genet, 2019 Nakagama Y +8 more
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Sepiapterin reductase deWciency an autosomal recessive DOPA-responsive dystonia
, 2006 The 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 ...
Beat Thöny e Nenad Blau +7 more
core
C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis. [PDF]
Mol SyndromolEslamiyeh H, Sefid F, Iravani F.
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Sepiapterin reductase gene-disrupted mice suffer from hypertension with fluctuation and bradycardia. [PDF]
Physiol Rep, 2017 Sumi-Ichinose C +9 more
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Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency. [PDF]
JIMD Rep, 2015 Zielonka M +5 more
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Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target. [PDF]
BMC Cancer, 2015 Yco LP +4 more
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Optimization and Validation of Plasma-Based Assay for Detection and Quantification of Monoamine Neurotransmitter Metabolites Using LC-MS/MS. [PDF]
ACS OmegaTauro L +5 more
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