Phenylketonurias

Known as: Phenylketonurias [Disease/Finding], PKU, Phenylketonuria [PKU] 
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced… (More)
National Institutes of Health

Papers overview

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Review
2017
Review
2017
We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the guidelines, we did a literature search… (More)
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Highly Cited
2008
Highly Cited
2008
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of… (More)
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Highly Cited
2004
Highly Cited
2004
Phenylketonuria patients harboring a subset of phenylalanine hydroxylase (PAH) mutations have recently shown normalization of… (More)
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Highly Cited
2002
Highly Cited
2002
A BSTRACT Background Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase… (More)
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Highly Cited
2002
Highly Cited
2002
In patients with phenylketonuria, blood phenylalanine concentration during childhood is the major determinant of cognitive… (More)
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Highly Cited
1999
Highly Cited
1999
Large neutral amino acids (LNAAs), including phenylalanine (Phe), compete for transport across the blood-brain barrier (BBB) via… (More)
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Highly Cited
1996
Highly Cited
1996
HNF1 is a transcriptional activator of many hepatic genes including albumin, alpha1-antitrypsin, and alpha- and beta-fibrinogen… (More)
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Highly Cited
1993
Highly Cited
1993
A new method for quantifying specific amino acids in small volumes of plasma and whole blood has been developed. Based on isotope… (More)
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Highly Cited
1990
Highly Cited
1990
7 patients with phenylketonuria who developed neurological disability in adolescence or early adult life are described. 4 had… (More)
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Highly Cited
1963
Highly Cited
1963
338 PRINCIPLE T HE INHIBITION of growth of Bacillus subtilis ATCC 6051 by B-2-thienylalanine in a minimal culture medium is… (More)
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