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Hyperphenylalaninaemia
Known as:
Hyperphenylalaninemia
, hyperphenylalaninaemias
An increased concentration of L-phenylalanine in the blood. [HPO:probinson]
National Institutes of Health
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Related topics
Related topics
10 relations
6-pyruvoyl-tetrahydropterin synthase deficiency
Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, Non-Phenylketonuric
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Broader (2)
Amino Acid Metabolism, Inborn Errors
Phenylketonurias
Narrower (1)
Classical phenylketonuria
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
Phenylalanine hydroxylase deficiency
John J. Mitchell
,
Y. Trakadis
,
C. Scriver
Genetics in Medicine
2011
Corpus ID: 25921607
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the…
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Review
2007
Review
2007
The PAH gene, phenylketonuria, and a paradigm shift
C. Scriver
Human Mutation
2007
Corpus ID: 2101478
“Inborn errors of metabolism,” first recognized 100 years ago by Garrod, were seen as transforming evidence for chemical and…
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Review
2004
Review
2004
The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds., 8th ed., McGraw-Hill, New-York…
A. Beaudet
,
C. Scriver
,
William
,
Sly
,
D. Valle
Biochemistry (Moscow)
2004
Corpus ID: 44850084
0006 2979/02/6705 0611$27.00 ©2002 MAIK “Nauka/Interperiodica” The previous seven editions of this book are well known to the…
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Review
2004
Review
2004
Clinical implications
Gordon L. Shaw
European Journal of Pediatrics
2004
Corpus ID: 2119444
range throughout the observation period, but differences became apparent when the patients were grouped according to their…
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Highly Cited
2001
Highly Cited
2001
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
T. Zytkovicz
,
Eileen F. Fitzgerald
,
+7 authors
George F. Grady
Clinical Chemistry
2001
Corpus ID: 84831
BACKGROUND Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots…
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Review
2000
Review
2000
Tetrahydrobiopterin biosynthesis, regeneration and functions.
B. Thöny
,
G. Auerbach
,
N. Blau
Biochemical Journal
2000
Corpus ID: 218978
Tetrahydrobiopterin (BH(4)) cofactor is essential for various processes, and is present in probably every cell or tissue of…
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Review
1999
Review
1999
Monogenic traits are not simple: lessons from phenylketonuria.
C. Scriver
,
P. Waters
Trends in Genetics
1999
Corpus ID: 30781455
Highly Cited
1998
Highly Cited
1998
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
P. Guldberg
,
F. Rey
,
+13 authors
F. Güttler
American Journal of Human Genetics
1998
Corpus ID: 33448047
Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding…
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Review
1986
Review
1986
Neutral amino acid transport at the human blood-brain barrier.
K. Hargreaves
,
W. Pardridge
Federation proceedings
1986
Corpus ID: 23307127
Transport regulates nutrient availability in the brain, and many pathways of brain amino acid metabolism are influenced by…
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Review
1980
Review
1980
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies.
R. Lenke
,
H. Levy
New England Journal of Medicine
1980
Corpus ID: 35901029
Since many women with phenylketonuria (PKU) will have children of their own, we were interested in ascertaining the effect of…
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