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Hyperphenylalaninaemia

Known as: Hyperphenylalaninemia, hyperphenylalaninaemias 
An increased concentration of L-phenylalanine in the blood. [HPO:probinson]
National Institutes of Health

Papers overview

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Review
2011
Review
2011
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the… Expand
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Review
2011
Review
2011
BH4 (6R-L-erythro-5,6,7,8-tetrahydrobiopterin) is an essential cofactor of a set of enzymes that are of central metabolic… Expand
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Highly Cited
2003
Highly Cited
2003
Phenylketonuria (PKU) has been also reported in children with infantile autism (IA); however, the frequency of this association… Expand
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Highly Cited
2001
Highly Cited
2001
BACKGROUND Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots… Expand
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Review
2000
Review
2000
Tetrahydrobiopterin (BH(4)) cofactor is essential for various processes, and is present in probably every cell or tissue of… Expand
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Highly Cited
1999
Highly Cited
1999
Phenylketonuria (PKU), with its associated hyperphenylalaninemia (HPA) and mental retardation, is a classic genetic disease and… Expand
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Highly Cited
1999
Highly Cited
1999
Development of acylcarnitine and amino acid profiling using tandem mass spectrometry, and its application for use with dried… Expand
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Highly Cited
1998
Highly Cited
1998
We compared the screening interpretation of fluorometric analytical results for phenylketonuria (PKU) with tandem mass… Expand
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Highly Cited
1995
Highly Cited
1995
I. INTRODUCTION II. PERSPECTIVES III. GENERAL THEMES IV. CANCER V. CHROMOSOMES VI. DIAGNOSTIC APPROACHES VII. CARBOHYDRATES VIII… Expand
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Highly Cited
1993
Highly Cited
1993
Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of… Expand
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