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Classical phenylketonuria
Known as:
Phenylalanine Hydroxylase Deficiency Disease, Severe
, Folling's Disease
, Phenylketonuria I
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A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria.
National Institutes of Health
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Related topics
Related topics
22 relations
Anxiety Disorders
Autosomal recessive inheritance
Cataract
Dry skin
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Broader (7)
Fetal Diseases
Hereditary Diseases
Hyperphenylalaninaemia
Nutritional and Metabolic Diseases
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Remediation approaches for polycyclic aromatic hydrocarbons (PAHs) contaminated soils: Technological constraints, emerging trends and future directions.
Saranya Kuppusamy
,
P. Thavamani
,
Kadiyala Venkateswarlu
,
Yong Bok Lee
,
R. Naidu
,
M. Megharaj
Chemosphere
2017
Corpus ID: 40378427
Review
2013
Review
2013
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Jerry Hans C. Kevin M. Nancy E. Barbara K. Dianne M. Joh Vockley Andersson Antshel Braverman Burton Frazier
,
J. Vockley
,
+8 authors
S. Berry
Genetics in Medicine
2013
Corpus ID: 1294975
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the…
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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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Highly Cited
2011
Highly Cited
2011
Role for miR-204 in human pulmonary arterial hypertension
A. Courboulin
,
R. Paulin
,
+9 authors
S. Bonnet
Journal of Experimental Medicine
2011
Corpus ID: 9232204
Reduced miR-204 expression facilitates the excessive proliferation and apoptosis resistance of pulmonary artery smooth muscle…
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Highly Cited
2008
Highly Cited
2008
Phenylketonuria: an inborn error of phenylalanine metabolism.
Robin A. Williams
,
C. Mamotte
,
J. Burnett
Clinical biochemist reviews
2008
Corpus ID: 22961849
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of…
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Highly Cited
2006
Highly Cited
2006
An Abnormal Mitochondrial–Hypoxia Inducible Factor-1&agr;–Kv Channel Pathway Disrupts Oxygen Sensing and Triggers Pulmonary Arterial Hypertension in Fawn Hooded Rats: Similarities to Human Pulmonary…
S. Bonnet
,
E. Michelakis
,
+9 authors
S. Archer
Circulation
2006
Corpus ID: 1278822
Background— The cause of pulmonary arterial hypertension (PAH) was investigated in humans and fawn hooded rats (FHR), a…
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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
1996
Highly Cited
1996
Hepatocyte Nuclear Factor 1 Inactivation Results in Hepatic Dysfunction, Phenylketonuria, and Renal Fanconi Syndrome
M. Pontoglio
,
J. Barra
,
+5 authors
M. Yaniv
Cell
1996
Corpus ID: 18007078
Highly Cited
1991
Highly Cited
1991
Prefrontal cortex cognitive deficits in children treated early and continuously for PKU.
A. Diamond
,
M. Prevor
,
G. Callender
,
Donald P. Druin
Monographs of the Society for Research in Child…
1991
Corpus ID: 21625017
To begin to study the importance of dopamine for executive function abilities dependent on prefrontal cortex during early…
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Highly Cited
1983
Highly Cited
1983
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria
S. Woo
,
A. Lidsky
,
F. Güttler
,
T. Chandra
,
K. Robson
Nature
1983
Corpus ID: 4273141
The human gene for the hepatic enzyme phenylalanine hydroxylase has been cloned and used to analyse the phenylalanine hydroxylase…
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