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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… 
National Institutes of Health

Related topics

Related topics

37 relations

Narrower (7)

6-pyruvoyl-tetrahydropterin synthase deficiencyClassical phenylketonuriaHyperphenylalaninaemiaHyperphenylalaninemia with primapterinuria

Broader (7)

Amino Acid Metabolism, Inborn ErrorsFetal DiseasesHereditary DiseasesMental Retardation
Amino acidemia disorder suspected:Prid:Pt:Bld.dot:NomConditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomDIHYDROPTERIDINE REDUCTASEGenetic Brain Disorders

Papers overview

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Highly Cited
1991
Highly Cited
1991
Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria.
Single-strand conformation polymorphism analysis of PCR products (PCR-SSCP) is based on the fact that mutations in amplified DNA… 
1990
1990
Phenylketonuria and Hyperphenylalaninemia
Untreated phenylketonuria (PKU) causes intellectual deterioration, seizures, various neuropsychiatric symptoms, defects in… 
1985
1985
Phenylalanine metabolites, attention span and hyperactivity.
The metabolites of phenylalanine, phenylacetate, phenyllactate, phenylpyruvate and phenylethylamine, were measured in the urine… 
Review
1980
Review
1980
A Review of the Economic Evidence on Prevention
This study examines the economic evidence on preventive health care. A discussion of benefit-cost analysis and cost-effectiveness… 
1974
1974
Minimal rates of oxygen consumption in small-for-dates babies during the first week of life.
anoxic birth. His death during an acute infection could be interpreted as indicating that he was merely living on borrowed time… 
Highly Cited
1972
Highly Cited
1972
LIPID COMPOSITION OF HUMAN CEREBRAL WHITE MATTER AND MYELIN IN PHENYLKETONURIA 1
Abstract— White matter and purified myelin from cerebral tissue obtained at autopsy from four phenylketonuric and five non… 
Highly Cited
1970
Highly Cited
1970
Clinical and biochemical observations of patients with atypical phenylketonuria.
Patients with hyperphenylalaninemia appear to represent a heterogeneous group. The enzyme phenylalanine hydroxylase may be… 
1970
1970
Learning Impairment associated with Maternal Phenylketonuria in Rats
MENTAL retardation is consistently found in the non-phenylketonuric children of phenylketonuric mothers.1 Attempts to duplicate… 
Highly Cited
1962
Highly Cited
1962
Termination of dietary treatment of phenylketonuria.
PREVIOUS reports have indicated that a phenylalanine-deficient diet initiated in the early months of life may be effective in… 
Highly Cited
1951
Highly Cited
1951
Phenylketonuria with a Study of the Effect upon it of Glutamic Acid
Since Foiling (1934) in Norway first drew attention to the association of mental defect with the excretion of phenylpyruvic acid…