Phenylketonuria II

Known as: Deficiency Disease, Dihydropteridine Reductase, Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency, Dihydropteridine Reductase Deficiency 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1979-2018
02419792018

Papers overview

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2012
2012
UNLABELLED BACKGROUND The hepatoprotective potential of Phellinus linteus polysaccharide (PLP) extracts has been described… (More)
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2010
2010
Children with early and continuously treated phenylketonuria (ECT-PKU) remain at risk of developing executive function (EF… (More)
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2008
2008
BACKGROUND In dystrophic mdx skeletal muscle, aberrant Ca2+ homeostasis and fibre degeneration are found. The absence of… (More)
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2007
2007
Deficient activity of the Dihydropteridine Reductase enzyme (DHPR; EC 1.5.1.34; OMIM 261630) is due to mutations in the Quinoid… (More)
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1998
1998
The dihydropyridine receptor (DHPR) and ryanodine receptor (RYR1) are needed for excitation-contraction coupling in skeletal… (More)
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1993
1993
The relationship between blood phenylalanine concentrations and serum and erythrocyte biopterin and neopterin concentrations was… (More)
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1992
1992
The neuropathology of a 6-year-old boy with maple syrup urine disease revealed spongy appearance of the white matter and marked… (More)
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1987
1987
We gave folinic acid to three siblings, and to a fourth child, who have or had dihydropteridine reductase (DHPR) deficiency. The… (More)
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1985
1985
Six hundred and seventy-three children (483 newborns and 190 older selected children) were screened for tetrahydrobiopterin (BH4… (More)
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1980
1980
Hyperphenylalaninemia due to dihydropteridine reductase deficiency results from the inability to maintain the aromatic amino acid… (More)
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