Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Known as: Sepiapterin Reductase Deficiency, SRD, Spr Deficiency 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2006-2017
01220062017

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
BACKGROUND Sepiapterin reductase deficiency is a rare, under-recognized, autosomal recessively inherited disorder of… (More)
Is this relevant?
2015
2015
Sepiapterin reductase (SR) deficiency is a rare autosomal recessively inherited error of tetrahydrobiopterin (BH4) biosynthesis… (More)
Is this relevant?
2015
2015
Sepiapterin reductase deficiency (SRD) causes depletion of biogenic amines in the brain, early onset motor disorder, and… (More)
  • table 1
  • figure 2
Is this relevant?
2015
2015
Escherichia coli messenger RNAs (mRNAs) are rapidly degraded immediately after bacteriophage T4 infection, and the host RNase E… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2014
2014
OBJECTIVES Sepiapterin reductase deficiency is a rare, but treatable inherited disorder of tetrahydrobiopterin and… (More)
  • figure 1
  • table 1
  • table 2
  • figure 2
Is this relevant?
2013
2013
We report on seven Iraqi patients with 46,XY karyotype and ambiguous genitalia characterized by perineo-scrotal hypospadias… (More)
  • figure 1
Is this relevant?
Review
2012
Review
2012
OBJECTIVE Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. We describe clinical… (More)
  • figure 1
  • figure 2
  • figure 3
  • table 1
  • figure 4
Is this relevant?
Review
2012
Review
2012
P. Dill, MD M. Wagner, MD A. Somerville, MD B. Thöny, PhD N. Blau, PhD P. Weber, MD Sepiapterin reductase deficiency (SRD) is a… (More)
  • figure 1
  • figure 2
Is this relevant?
2006
2006
Individuals with a family history of alcoholism (FH+) are at risk to develop alcohol problems. In several studies… (More)
Is this relevant?