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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

Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the… 
Review
2007
Review
2007
“Inborn errors of metabolism,” first recognized 100 years ago by Garrod, were seen as transforming evidence for chemical and… 
Review
2004
Review
2004
0006 2979/02/6705 0611$27.00 ©2002 MAIK “Nauka/Interperiodica” The previous seven editions of this book are well known to the… 
Review
2004
Review
2004
range throughout the observation period, but differences became apparent when the patients were grouped according to their… 
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… 
Review
2000
Review
2000
Tetrahydrobiopterin (BH(4)) cofactor is essential for various processes, and is present in probably every cell or tissue of… 
Highly Cited
1998
Highly Cited
1998
Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding… 
Review
1986
Review
1986
Transport regulates nutrient availability in the brain, and many pathways of brain amino acid metabolism are influenced by… 
Review
1980
Review
1980
Since many women with phenylketonuria (PKU) will have children of their own, we were interested in ascertaining the effect of…