Molecular Analysis of the Inheritance of Phenylketonuria and Mild Hyperphenylalaninemia in Families with Both Disorders

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

1983 • 334 citations

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1985 • 325 citations

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

1980 • 194 citations

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1986 • 174 citations

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

1985 • 152 citations

Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans

1984 • 149 citations

Phenylketonuria: Epitome of Human Biochemical Genetics

1980 • 132 citations

Gene Transfer and Expression of Human Phenylalanine Hydroxylase

1985 • 131 citations

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

1982 • 113 citations

Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man

1968 • 78 citations

Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria

1973 • 72 citations

Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage

1975 • 62 citations

Phenylketonuria and Its Variants

1983 • 59 citations

PHENYLKETONURIA AND OTHER PHENYLALANINE HYDROXYLATION MUTANTS IN MAN

1980 • 58 citations

Persistent Mild Hyperphenylalaninemia in the Untreated State

1971 • 55 citations

Laboratory Techniques for the Detection of Hereditary Metabolic Disorders

1973 • 55 citations

Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells.

1986 • 55 citations

Causes for High Phenylalanine With Normal Tyrosine

1969 • 52 citations

Classic phenylketonuria: Diagnosis through heterozygote detection

1975 • 43 citations

POLYMORPHIC DNA HAPLOTYPES AT THE PHENYLALANINE HYDROXYLASE LOCUS IN PRENATAL DIAGNOSIS OF PHENYLKETONURIA

1986 • 38 citations

A THIRD ALLELE AT THE PHENYLALANINE-HYDROXYLASE LOCUS IN MILD PHENYLKETONURIA (HYPERPHENYLALANEWEMIA)

1968 • 28 citations

Different Phenotypes for Phenylalanine Hydroxylase Deficiency

1977 • 21 citations

Biopterin synthesis defects: problems in diagnosis.

1984 • 21 citations

Prenatal Diagnosis of Classical Phenylketonuria by Gene Mapping

1984 • 19 citations

Observations indicating the nature of the mutation in phenylketonuria

1979 • 15 citations

MENTAL RETARDATION IN A FAMILY WITH PHENYLKETONURIA AND MILD HYPERPH ENYLALANINEMIA

1969 • 12 citations

Compoond heterozygotes in hyperphenylalaninaemia

1984 • 10 citations

Molecular biology of phenylalanine hydroxylase and phenylketonuria

1985 • 6 citations