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Phenylketonuria II

Known as: Deficiency Disease, Dihydropteridine Reductase, HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY, DIHYDROPTERIDINE REDUCTASE DEFICIENCY 
 
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
A growing interest in cell biology is to express transgenically modified forms of essential proteins (e.g. fluorescently tagged… Expand
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Review
2008
Review
2008
Guanosine triphosphate cyclohydrolase 1 (GCH1) is the first enzyme in the tetrahydrobiopterin (BH4) biosynthesis, an important co… Expand
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2007
2007
Diesel exhaust particles (DEPs) contain oxygen-containing polycyclic aromatic hydrocarbons (PAHs) called quinoid PAHs. Some… Expand
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2005
2005
Mitochondrial permeability transition (MPT) is a Ca(2+)-dependent, cyclosporine A-sensitive, non-selective inner membrane… Expand
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2004
2004
Dihydropyridine receptors (DHPRs), ryanodine receptors (RyRs), and triadin are major components of triads of mature skeletal… Expand
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Highly Cited
1998
Highly Cited
1998
We have studied the GTP-cyclohydrolase 1 (GCH-1) gene in 30 patients with the diagnosis of clinically definite (n = 20) or… Expand
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Review
1993
Review
1993
Hydrogenation catalysts are prepared by forming a complex from equimolar amounts of a platinum group metal halide, e.g. rhodium… Expand
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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… Expand
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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… Expand
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1979
1979
Abstract The effect of administration of several pterins on serum phenylalanine concentration (Phe) and urinary pterin excretion… Expand
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