Phenylketonuria and Its Variants

Levels of glutathione, glutathione reductase and glutathione S-transferase activities in rat lung and liver

1979 • 4,067 citations

The Metabolic Basis of Inherited Disease.

1972 • 1,407 citations

Chemistry and biology of pteridines

1956 • 1,263 citations

THE FREE AMINO ACIDS OF HUMAN BLOOD PLASMA

1954 • 939 citations

Molecular Mechanisms of Oxygen Activation

1974 • 879 citations

Inborn Errors of Metabolism

2001 • 698 citations

Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität.

1934 • 526 citations

Serotonin as a Differentiation Signal in Early Neurogenesis

1978 • 454 citations

Partial Purification and Characterization of Tryptophan Hydroxylase from Rabbit Hindbrain

1972 • 445 citations

Solubilization and Partial Purification of Tyrosine Hydroxylase from Bovine Adrenal Medulla

1971 • 412 citations

THE STRUCTURE OF THE PHENYLALANINE-HYDROXYLATION COFACTOR

1963 • 378 citations

DEATH-CAP POISONING

1973 • 358 citations

Studies on the Mechanism of the Enzymatic Conversion of Phenylalanine to Tyrosine

1959 • 356 citations

Biochemistry of the Developing Nervous System

1956 • 334 citations

Phenylketonuria Due to a Deficiency of Dihydropteridine Reductase

1975 • 317 citations

The Influence of Phenylalanine Intake on the Chemistry and Behaviour of a Phenylketonuria Child

1954 • 297 citations

A New Pteridine-requiring Enzyme System for the Oxidation of Glyceryl Ethers

1964 • 294 citations

Hand-Foot-And-Mouth Disease

2021 • 284 citations

Amino Acid Metabolism and Genetic Variation.

1968 • 263 citations

ADRENAL FUNCTION AND ASTHMA

1965 • 259 citations

Effect of beta-chloroethylamine hydrochlorides in leukaemia, Hodgkin's disease, and polycythaemia vera; report on 18 cases.

1947 • 257 citations

The Isolation and Characterization of Dihydropteridine Reductase from Sheep Liver

1972 • 256 citations

Amino Acid Metabolism and Its Disorders.

1974 • 255 citations

THE ENZYMATIC CONVERSION OF PHENYLALANINE TO TYROSINE

1952 • 244 citations

The effects of high phenylalanine concentrations on serotinin and catecholamine metabolism in the human brain

1972 • 223 citations

Blood Screening for Phenylketonuria

1961 • 223 citations

THE ENZYMATIC CONVERSION OF PHENYLALANINE TO TYROSINE

1957 • 216 citations

Studies on the Structure of the Primary Oxidation Product Formed from Tetrahydropteridines during Phenylalanine Hydroxylation

1964 • 214 citations

Treatment of Phenylketonuria with a Diet Low in Phenylalanine

1955 • 198 citations

Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system.

1953 • 195 citations

The role of tetrahydropteridines in the enzymatic conversion of tyrosine to 3,4-dihydroxyphenylalanine

1964 • 192 citations

A simple purification of phenylalanine hydroxylase by substrate-induced hydrophobic chromatography.

1979 • 191 citations

Hyperphenylalaninemia Due to a Deficiency of Biopterin

1978 • 190 citations

Advances in Neurochemistry

1978 • 190 citations

In vivo enhancement of tyrosine hydroxylation in rat striatum by tetrahydrobiopterin

1974 • 180 citations

Further Studies on the Phenylalanine-hydroxylation Cofactor

1959 • 180 citations

Metabolism of the Phenylalanine Hydroxylation Cofactor

1967 • 179 citations

STUDIES ON PHENYLPYRUVIC OLIGOPHRENIA

1947 • 178 citations

STUDIES ON PHENYLKETONURIA. I. RESTRICTED PHENYLALANINE INTAKE IN PHENYLKETONURIA 1

1955 • 173 citations

VARIANT FORMS OF PHENYLKETONURIA

1976 • 171 citations

THE VARIABILITY IN MANIFESTATIONS OF UNTREATED PATIENTS WITH PHENYLKETONURIA (PHENYLPYRUVIC ACIDURIA)

1957 • 170 citations

Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria.

1978 • 164 citations

Purification and Some Physical Properties of Phenylalanine Hydroxylase from Rat Liver

1970 • 162 citations

Neuropathology of Phenylketonuria

1966 • 155 citations

In vitro activation of rat liver phenylalanine hydroxylase by phosphorylation.

1976 • 149 citations

Occasional Book

1962 • 149 citations

Rat Liver Phenylalanine Hydroxylase, an Iron Enzyme

1972 • 143 citations

The excretion of amino acids by the human. A quantitative study with ion-exchange chromatography

1956 • 142 citations

The Phenylalanine Hydroxylating System from Mammalian Liver

1971 • 137 citations

Metabolic studies in phenylketonuria

1937 • 134 citations

The Amino Acid Content of the Blood and Urine in Wilson's Disease

1954 • 129 citations

A NEW COFACTOR REQUIRED FOR THE ENZYMATIC CONVERSION OF PHENYLALANINE TO TYROSINE

1958 • 127 citations

Age effect on dopamine and serotonin metabolite levels in cerebrospinal fluid

1980 • 124 citations

Studies on partially purified phenylalanine hydroxylase

1956 • 123 citations

Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin

1979 • 118 citations

On the excretion of indole derivatives in phenylketonuria

1954 • 118 citations

A Protein That Stimulates Rat Liver Phenylalanine Hydroxylase

1970 • 117 citations

The Genetics of Phenylpyruvic Oligophrenia

1939 • 115 citations

Malignant hyperphenylalaninaemia—Current status (June 1977)

1978 • 108 citations

Phenylketonuria: Biochemical Mechanisms

1977 • 105 citations

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

1975 • 105 citations

Tryptophan hydroxylase. Purification and some properties of the enzyme from rabbit hindbrain

1975 • 102 citations

Phenylalanine hydroxylase activity in mammalian cells

1969 • 101 citations

Intellectual Development and Academic Achievement of Children Treated Early for Phenylketonuria

1979 • 100 citations

Phenylalanine hydroxylase. Correlation of the iron content with activity and the preparation and reconstitution of the apoenzyme.

1982 • 97 citations

ATYPICAL PHENYLKETONURIA CAUSED BY 7, 8-DIHYDROBIOPTERIN SYNTHETASE DEFICIENCY

1979 • 95 citations

On the Nature of Enzymatic Defect in Phenylpyruvic Oligophrenia

1957 • 94 citations

Phenylpyruvic oligophrenia (phenylketonuria).

1954 • 93 citations

Peripherally Administered Reduced Pterins Do Enter the Brain

1981 • 92 citations

A NEW MOLECULAR DEFECT IN PHENYLKETONURIA

1974 • 91 citations

Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening und study of biosynthesis in man

1982 • 91 citations

Phenylalanine Hydroxylation Cofactor in Phenylketonuria

1958 • 90 citations

Glucagon stimulation of rat hepatic phenylalanine hydroxylase through phosphorylation in vivo.

1978 • 88 citations

Dihydropteridine Reductase

1969 • 86 citations

A ONE-YEAR, CONTROLLED STUDY OF THE EFFECT OF LOW-PHENYLALANINE DIET ON PHENYLKETONURIA

1958 • 86 citations

Intellectual Assessment of 111 Four-Year-Old Children With Phenylketonuria

1977 • 85 citations

Biopterin

1978 • 85 citations

Termination of dietary treatment in phenylketonuria

1977 • 85 citations

Studies on Conversion of Phenylalanine to Tyrosine in Phenylpyruvic Oligophrenia.

1957 • 85 citations

NEUROPATHOLOGIC OBSERVATIONS IN PHENYLKETONURIA

1959 • 82 citations

The Stimulation of Rat Liver Phenylalanine Hydroxylase by Phospholipids

1972 • 82 citations

Atypical Phenylketonuria With Normal Phenylalanine Hydroxylase and Dihydropteridine Reductase Activity in Vitro

1977 • 81 citations

PHENYLALANINE-HYDROXYLASE ACTIVITY IN HYPERPHENYLALANINÆMIA

1967 • 81 citations

Tetrahydropterin Oxidation without Hydroxylation Catalyzed by Rat Liver Phenylalanine Hydroxylase

1973 • 80 citations

Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.

1976 • 79 citations

Phenylketonuria: Mental development, behavior, and termination of low phenylalanine diet

1968 • 78 citations

Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man

1968 • 78 citations

A disorder of biogenic amines in dihydropteridine reductase deficiency

1978 • 74 citations

Characterization of the dihydropterin reductase activity of pig liver methylenetetrahydrofolate reductase.

1980 • 73 citations

The use of deuterated phenylalanine for the elucidation of the phenylalanine-tyrosine metabolism

1972 • 72 citations

Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria

1973 • 72 citations

CLINICAL AND BIOCHEMICAL OBSERVATIONS OF PATIENTS WITH ATYPICAL PHENYLKETONURIA

1970 • 71 citations

A direct assay for liver phenylalanine hydroxylase

1969 • 71 citations

Legislation and advances in medical knowledge—acceleration or inhibition?

1966 • 71 citations

Purification and Characterization of Phenylalanine Hydroxylase-stimulating Protein from Rat Liver

1973 • 71 citations

The isolation and properties of phenylalanine hydroxylase from rat liver

1974 • 69 citations

Use of Tetrahydropterins in the Treatment of Hyperphenylalaninemia due to Defective Synthesis of Tetrahydrobiopterin: Evidence that Peripherally Administered Tetrahydropterins Enter the Brain

1982 • 68 citations

Termination of Dietary Treatment of Phenylketonuria

1962 • 68 citations

Nature of the Molecular Defect in Phenylketonuria and Hyperphenylalaninaemia

1972 • 67 citations

The Isolation and Characterization of a Pteridine Required for the Growth of Crithidia fasciculata¹

1956 • 66 citations

Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.

1978 • 66 citations

Phenylketonuria VIII. Relation between Age, Serum Phenylalanine Level, and Phenylpyruvic Acid Excretion.

1957 • 65 citations

Studies on the phenylalanine hydroxylase system in liver slices.

1975 • 63 citations

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

1975 • 62 citations

Phenylketonuria and allied metabolic diseases.

1965 • 62 citations

Phenylalanine Hydoxylase in Human Liver during Development

1973 • 61 citations

Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia

1981 • 61 citations

The Phenylalanine Requirement of the Normal Infant

1955 • 60 citations

Tests for Phenylketonuria

1959 • 60 citations

Isozymes of Phenylalanine Hydroxylase

1972 • 60 citations

Daily Rhythm of Plasma Melatonin in Normal and Precocious Puberty*

1982 • 60 citations

Hyperphenylalaninemia due to dihydropteridine reductase deficiency

1976 • 59 citations

PHENYLKETONURIA AND OTHER PHENYLALANINE HYDROXYLATION MUTANTS IN MAN

1980 • 58 citations

Phenylalanine hydroxylase of human liver: Assay and some properties

1969 • 57 citations

Detection of heterozygotes for phenylketonuria

1960 • 57 citations

Phenylketonuria

1960 • 56 citations

Aromatic acid excretion in phenylketonuria analysis of the unconjugated aromatic acids derived from phenylalanine

1970 • 56 citations

The Dietary Treatment of Phenylketonuria: Not Proven?

1967 • 56 citations

Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU)

1977 • 55 citations

Studies on the Mechanisms of Action of Phenylalanine Hydroxylase and Its Protein Stimulator

1973 • 55 citations

THE EFFECT OF AGE, GROWTH RETARDATION AND ASPHYXIA ON ASCORBIC ACID CONCENTRATIONS IN DEVELOPING BRAIN

1973 • 54 citations

The determination of glutathione in blood and tissues

1955 • 53 citations

L-DOPA AND 5-HYDROXYTRYPTOPHAN THERAPY IN PHENYLKETONURIA WITH NORMAL PHENYLALANINE-HYDROXYLASE ACTIVITY

1975 • 53 citations

Studies on the phenylalanine hydroxylase system in vivo. An in vivo assay based on the liberation of deuterium or tritium into the body water from ring-labeled L-phenylalanine.

1975 • 52 citations

Relationship between the multiple forms of rat hepatic phenylalanine hydroxylase and degree of phosphorylation.

1980 • 52 citations

THE AMINO ACID REQUIREMENTS OF MAN

1955 • 52 citations

Causes for High Phenylalanine With Normal Tyrosine

1969 • 52 citations

Malignant Hyperphenylalaninemia—Clinical Features, Biochemical Findings, and Experience with Administration of Biopterins

1979 • 52 citations

Neopterin and Biopterin Levels in Patients with Atypical Forms of Phenylketonuria

1980 • 52 citations

BIRTHWEIGHTS IN CHILDREN WITH PHENYLKETONURIA AND IN THEIR SIBLINGS

1972 • 51 citations

Dihydropteridine Reductase from Bovine Liver

1977 • 51 citations

Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Measurement of Oxidized and Reduced Pterins in Urine

1980 • 50 citations

Dihydropteridine Reductase Deficiency Associated With Severe Neurologic Disease and Mild Hyperphenylalaninemia

1979 • 49 citations

NATURAL HISTORY OF PHENYLKETONURIA AND INFLUENCE OF EARLY TREATMENT

1974 • 49 citations

Cerebral proteolipids in phenylketonuria

1968 • 48 citations

The β-Adrenergic Receptor and the Regulation of Circadian Rhythms in the Pineal Gland

1977 • 48 citations

Quantitative studies on the urinary excretion of unconjugated aromatic acids in phenylketonuria

1974 • 48 citations

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

1958 • 47 citations

Studies on Phenylketonuria. V. Observations on a Newborn Infant with Phenylketonuria.

1956 • 47 citations

A simple test for heterozygosity for phenylketonuria

1967 • 46 citations

Properties of Purified Quinonoid Dihydropterin Reductase

1973 • 44 citations

Proceedings: Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment.

1974 • 43 citations

HEPATIC METABOLISM OF PHENYLALANINE DURING DEVELOPMENT*

1959 • 43 citations

Termination of Restricted Diet in Children with Phenylketonuria: A Randomized Controlled Study

1975 • 42 citations

DETECTION OF THE HETEROZYGOUS CARRIERS OF PHENYLKETONURIA

1956 • 42 citations

Biosynthesis of Biopterin by Rat Brain

1982 • 42 citations

DIHYDROPTERIDINE REDUCTASE MAY FUNCTION IN TETRAHYDROFOLATE METABOLISM

1978 • 41 citations

A study of the development of phenylalanine hydroxylase in fetuses of several mammalian species

1971 • 41 citations

The isolation and properties of phenylalanine hydroxylase from human liver

1974 • 41 citations

Determination of heterozygosity for phenylketonuria on the amino acid analyzer

1967 • 40 citations

Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism

1981 • 40 citations

Biopterin

1976 • 39 citations

Phenylalanine tolerance tests on relatives of phenylketonuric children.

1957 • 38 citations

Excretion of conjugated phenylacetic acid in phenylketonuria.

1951 • 38 citations

Phenylketonuria and its variants.

1970 • 38 citations

Phenylalanine-hydroxylating system in the human fetus at different developmental ages

1971 • 38 citations

Hyperphenylalaniaemia due to dihydropteridine reductase deficiency

1978 • 37 citations

Zur Pathogenese des Schwachsinns bei Phenylketonurie

1962 • 36 citations

Tetrahydrobiopterin, a Cofactor in Mitochondrial Electron Transfer. Effect of Tetrahydropterins on Intact Rat-Liver Mitochondria

1972 • 36 citations

Phenylketonuria. Mass screening of newborns in Ireland.

1968 • 36 citations

Indicanuria in phenylketonuria.

1960 • 35 citations

Production of antibodies to rat liver phenylalanine hydroxylase. Cross-reactivity with other pterin-dependent hydroxylases.

1972 • 35 citations

Purification and characterization of phenylalanine 4-monooxygenase from rat liver

1980 • 33 citations

Variations in intelligence in phenylktonuria.

1962 • 32 citations

Vorläufige Schlußfolgerungen aus Belastungsversuchen mit Phenylalanin an Menschen und Tieren

1938 • 31 citations

Neonatal Screening for Phenylketonuria: II. Age Dependence of Initial Phenylalanine in Infants With PKU

1974 • 31 citations

Biochemical Genetics of Neurologic Disease

1981 • 29 citations

Intelligence and phenylketonuria: Effects of diet termination

1979 • 28 citations

Some characteristics of partially purified human liver phenylalanine hydroxylase

1973 • 28 citations

Effects of oral phenylalanine load on plasma glucagon, insulin, amino acid and glucose concentrations in man

1978 • 27 citations

Genetic Aspects of Infantile Agranulocytosis

1956 • 27 citations

The implications of multiple forms of phenylalanine hydroxylase in phenylketonuria and related diseases of phenylalanine metabolism

1976 • 27 citations

Purification of dihydropterin reductase using immobilized Cibacron Blue

1979 • 27 citations

Human dihydropteridine reductase a method for the measurement of activity in cultured cells, and its application to malignant hyperphenylalaninemia

1979 • 27 citations

ALTERED SEX RATIO AMONG PHENYLKETONURIC INFANTS ASCERTAINED BY SCREENING THE NEWBORN

1970 • 27 citations

Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency

1981 • 27 citations

A VARIANT OF PHENYLKETONURIA

1975 • 26 citations

FREE AMINO ACIDS AND RELATED COMPOUNDS IN FIVE REGIONS OF BIOPSIED CAT BRAIN

1972 • 26 citations

Aromatic Hydroxylations

1962 • 26 citations

Spontaneous activation of phenylalanine hydroxylase in rat liver extracts.

1982 • 26 citations

Termination of dietary treatment of phenylketonuria.

1967 • 25 citations

BIOPTERIN V. DE NOVO SYNTHESIS OF DIHYDROBIOPTERIN: EVIDENCE FOR ITS QUINONOID STRUCTURE AND LACK OF DEPENDENCE OF ITS REDUCTION TO TETRAHYDROBIOPTERIN ON DIHYDROFOLATE REDUCTASE

1979 • 25 citations

Dihydropteridine reductase deficiency: diagnosis by leukocyte enzyme assay

1980 • 25 citations

Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients

1977 • 25 citations

Modification of the multiple forms of rat hepatic phenylalanine hydroxylase by in vitro phosphorylation

1977 • 25 citations

Differential Diagnosis of Variant Forms of Hyperphenylalaninemia

1980 • 24 citations

Ontogenesis of Phenylalanine and Tryptophan Hydroxylation in Rat Brain and Liver

1971 • 24 citations

Alpha1-Antitrypsin Phenotype: Transient Cathodal Shift in Serum of Infant Girl with Urinary Cytomegalovirus and Fatty Liver

1982 • 24 citations

Diagnosis of Dihydropteridine Reductase Deficiency by Erythrocyte Enzyme Assay

1981 • 24 citations

Partial purification and characterization of rat liver phenylalanine hydroxylase phosphatase.

1977 • 23 citations

Protein Phosphorylation

1980 • 22 citations

A New Enzyme, NADPH-Dihydropteridine Reductase in Bovine Liver

1977 • 22 citations

NEW FORMS OF PHENYLKETONURIA

1975 • 20 citations

Gas chromatography of some urinary acid metabolites related to phenylketonuria

1969 • 20 citations

Genetics of the mammalian phenylalanine hydroxylase system. II. Immunological and two-dimensional gel electrophoretic studies of phenylalanine hydroxylase in cultured normal and mutant rat hepatoma cells

1979 • 20 citations

Affinity Chromatography of Phenylalanine Hydroxylase

1978 • 20 citations

Studies on human phenylalanine mono‐oxygenase. I. Restricted expression

1981 • 20 citations

Termination of Dietary Treatment for Phenylketonuria

1963 • 19 citations

Purification of dihydropteridine reductase from human platelets

1981 • 17 citations

PKU locus: Genetic linkage with human amylase (Amy) loci and assignment to linkage group I

1978 • 17 citations

PTERIN ADMINISTRATION AS A THERAPY FOR P.K.U. DUE TO DIHYDROPTERIDINE-REDUCTASE DEFICIENCY ?

1975 • 16 citations

Diagnosis of malignant hyperphenylalaninaemia.

1979 • 16 citations

HYPERPHENYLALANINEMIA DUE TO PHENYLALANINE HYDROXYLASE COFACTOR DEFICIENCY

1977 • 16 citations

Three immunologically distinct isoenzymes of phenylalanine hydroxylase

1975 • 15 citations

Production of antibodies to sheep liver dihydropteridine reductase: Characterization and use to study the enzyme defect in a variant form of phenylketonuria

1975 • 14 citations

The development of tetrahydrobiopterin and guanosine-5′-triphosphate cyclohydrolase: differential patterns in rat brain and pineal gland

1983 • 14 citations

DISCUSSION PAPER: QUINONOID DIHYDROPTERIN REDUCTASE*

1971 • 14 citations

A linkage study of phenylketonuria

1974 • 14 citations

Influence of Age on ortho-Hydroxyphenylacetic Acid Excretion in Phenylketonuria and Its Genetic Variants

1974 • 14 citations

Neonatal screening for phenylketonuria: III. Altered sex ratio; extent and possible causes

1974 • 13 citations

Further Studies on the Nature of Phenylalanine Hydroxylation in Brain

1974 • 13 citations

Phenylalaninhydroxylase-aktivität in der leber als parameter zur unterscheidung der verschiedenen formen der hyperphenylalaninämien

1975 • 12 citations

Studies of the isoenzymes of phenylalanine hydroxylase in humans

1977 • 12 citations

Dihydropteridine reductase deficiency variant of phenylketonuria: a disorder of neurotransmitters.

1975 • 12 citations

Phenylketonuria heterozygote detection in families with affected children.

1978 • 12 citations

Identification of dihydropteridine reductase in human platelets

1979 • 12 citations

Genetics and biochemistry of the phenylketonuria-present state

1979 • 11 citations

Phenylalanine hydroxylase activity in human foetal fibroblastic cells in culture

1972 • 10 citations

Studies on the molecular defect in phenylketonuria and hyperphenylalaninaemia using antibodies against phenylalanine hydroxylase

1982 • 10 citations

Assignment of a gene for human quinoid-dihydropteridine reductase (QDPR, EC 1.6.5.1) to chromosome 4

1979 • 9 citations

Inborn errors of metabolism

1992 • 9 citations

BRAIN-STEM MATURATION IN PRE-TERM INFANTS

1976 • 8 citations

Purification of rat liver phenylalanine hydroxylase by affinity chromatography

1980 • 7 citations

Phenylpyruvate and o-hydroxyphenylacetate in phenylketonuric urine

1971 • 5 citations

Stars for students

1974 • 1 citations