Phenylketonuria heterozygote detection in families with affected children.

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

1963 • 2,115 citations

Technical pitfalls leading to errors in the quantitation of plasma amino acids

1969 • 268 citations

THE INFLUENCE OF HIGH PHENYLALANINE AND TYROSINE ON THE CONCENTRATIONS OF ESSENTIAL AMINO ACIDS IN BRAIN

1968 • 163 citations

Detection by Phenylalanine Tolerance Tests of Heterozygous Carriers of Phenylketonuria

1956 • 150 citations

The Phenylalanine Hydroxylating System from Mammalian Liver

1971 • 137 citations

ION EXCHANGE CHROMATOGRAPHY OF AMINO ACIDS – MICRODETERMINATION OF FREE AMINO ACIDS IN SERUM

1962 • 127 citations

Excretion of tryptophan metabolites as affected by pregnancy, contraceptive steroids, and steroid hormones

1971 • 90 citations

Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man

1968 • 78 citations

MEASUREMENT OF PLEIOTROPIC EFFECTS IN PHENYLKETONURIA

1951 • 77 citations

Impairment of Phenylalanine Hydroxylation in Chronic Renal Insufficiency

1973 • 76 citations

The use of biochemical data in screening for mutant alleles and in genetic counselling

1974 • 68 citations

Reduction of plasma tyrosine by oral contraceptives and oestrogens: A possible consequence of tyrosine aminotransferase induction

1970 • 52 citations

The detection in the heterozygote of the metabolic effect of the recessive gene for phenylketonuria.

1958 • 47 citations

Diet and Uptake of Aldomet by the Brain: Competition with Natural Large Neutral Amino Acids

1977 • 44 citations

Classic phenylketonuria: Diagnosis through heterozygote detection

1975 • 43 citations

L-tryptophan metabolism in phenylketonuria

1966 • 42 citations

Determination of heterozygosity for phenylketonuria on the amino acid analyzer

1967 • 40 citations

ORAL CONTRACEPTIVES, DEPRESSION, AND AMINOACID METABOLISM

1970 • 36 citations

Phenylalanine loading and aromatic acid excretion in normal subjects and heterozygotes for phenylketonuria

1973 • 32 citations

PHENYLKETONURIA: THE PHENYLALANINE‐TYROSINE RATIO IN THE DETECTION OF THE HETEROZYGOUS CARRIER

1958 • 31 citations

Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio.

1975 • 30 citations

Detection of Phenylketonuric Heterozygotes

1971 • 28 citations

Classic phenylketonuria: heterozygote detection during pregnancy.

1973 • 18 citations

Problems in the biochemical detection of heterozygotes for phenylketonuria

1972 • 16 citations

Effects of oral contraceptives and obesity on carrier tests for phenylketonuria

1973 • 14 citations

Nutritional Management in Phenylketonuria

1971 • 10 citations

Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria

1974 • 9 citations