Pathogenetic problems in phenylketonuria

Inborn Errors of Metabolism

2001 • 698 citations

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

1934 • 526 citations

Enzymatic and Metabolic Adaptations in Animals

1956 • 457 citations

HEREDITARY PELLAGRA-LIKE SKIN RASH WITH TEMPORARY CEREBELLAR ATAXIA, CONSTANT RENAL AMINO-ACIDURIA, AND OTHER BIZARRE BIOCHEMICAL FEATURES

1956 • 402 citations

Biochemistry of the Developing Nervous System

1956 • 334 citations

A Symposium on Amino Acid Metabolism

1956 • 325 citations

THE SPECIFIC AMINO ACID REQUIREMENTS OF A HUMAN CARCINOMA CELL (STRAIN H<scp>E</scp>L<scp>A</scp>) IN TISSUE CULTURE

1955 • 320 citations

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

1954 • 297 citations

Primary systemic amyloidosis: a review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. 1956.

1993 • 268 citations

REDUCTION OF α,γ-DIKETO AND α-KETO ACIDS CATALYZED BY MUSCLE PREPARATIONS AND BY CRYS-TALLINE LACTIC DEHYDROGENASE

1950 • 263 citations

Government service and freedom.

1947 • 247 citations

THE ENZYMATIC CONVERSION OF PHENYLALANINE TO TYROSINE

1952 • 244 citations

l-AMINO ACID OXIDASE OF ANIMAL TISSUE

1944 • 220 citations

Biochemistry of the Developing Nervous System

1956 • 220 citations

PRIMARY SYSTEMIC AMYLOIDOSIS

1956 • 212 citations

Biochemical Genetics.

1945 • 209 citations

Treatment of Phenylketonuria with a Diet Low in Phenylalanine

1955 • 198 citations

Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system.

1953 • 195 citations

STUDIES ON PHENYLPYRUVIC OLIGOPHRENIA

1947 • 178 citations

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

1955 • 173 citations

GLYCINE N-ACYLASE: PURIFICATION AND PROPERTIES

1954 • 168 citations

Detection by Phenylalanine Tolerance Tests of Heterozygous Carriers of Phenylketonuria

1956 • 150 citations

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

1956 • 142 citations

PHENYLACETYLGLUTAMINE AS A CONSTITUENT OF NORMAL HUMAN URINE

1954 • 142 citations

A DEFECT IN THE METABOLISM OF TYROSINE AND PHENYLALANINE IN PREMATURE INFANTS. I. IDENTIFICATION AND ASSAY OF INTERMEDIARY PRODUCTS 12

1941 • 136 citations

PAPER CHROMATOGRAPHY OF URINARY INDOLES

1955 • 133 citations

STUDIES ON PHENYLKETONURIA

1955 • 133 citations

INHERITANCE OF PHENYLPYRUVIC AMENTIA (PHENYLKETONURIA)

1935 • 123 citations

Developmental Disorders of Mentation and Cerebral Palsies.

1952 • 123 citations

On the excretion of indole derivatives in phenylketonuria

1954 • 118 citations

The Genetics of Phenylpyruvic Oligophrenia

1939 • 115 citations

Neuropathological Findings in Phenyl-Pyruvic Oligophrenia (Phenyl-Ketonuria)

1950 • 113 citations

THE HYDROXYLATION OF PHENYLALANINE AND ANTIPYRINE IN PHENYLPYRUVIC OLIGOPHRENIA

1953 • 103 citations

Phenylpyruvic oligophrenia (phenylketonuria).

1954 • 93 citations

The Concentration of Adrenaline in Human Plasma and its Relation to Mental Activity

1955 • 84 citations

Phenylketonuria with a Study of the Effect upon it of Glutamic Acid

1951 • 84 citations

PHENYLKETONURIA: DATA ON FORTY‐SEVEN BRITISH FAMILIES

1947 • 82 citations

Detection of Some New Abnormal Metabolites in the Urine of Phenylketonuria

1953 • 82 citations

Developmental Disorders of Mentation and Cerebral Palsies.

1952 • 69 citations

Queries and Minor Notes.

1903 • 69 citations

CHEMICAL AND METABOLIC STUDIES ON PHENYLALANINE II. THE PHENYLALANINE CONTENT OF THE BLOOD AND SPINAL FLUID IN PHENYLPYRUVIC OLIGOPHRENIA

1940 • 63 citations

Metabolism of the Aromatic Amino Acids

1955 • 61 citations

Excretion of Phenylalanine and Derivatives in Phenylpyruvic Oligophrenia

1950 • 61 citations

EFFECT OF A PHENYLALANINE-RESTRICTED DIET ON PATIENTS WITH PHENYLKETONURIA

1956 • 61 citations

Metabolism of Amino Acids and Proteins

1953 • 53 citations

CHEMICAL AND METABOLIC STUDIES ON PHENYLALANINE

1940 • 53 citations

Phenylpyruvic Oligophrenia

1951 • 52 citations

KINETIC AND SUBSTRATE SPECIFICITY STUDY OF TYROSINE-α-KETOGLUTARIC ACID TRANSAMINASE

1956 • 51 citations

THE ABNORMAL HUMAN HEMOGLOBINS

1956 • 48 citations

CHEMICAL AND METABOLIC STUDIES ON PHENYLALANINE

1940 • 48 citations

Studies on Phenylpyruvic Oligophrenia. Phenylpyruvic Acid Content of Blood

1952 • 47 citations

AN ATYPICAL CASE OF PHENYLKETONURIA

1951 • 45 citations

The Urodele neuroepithelium. II. The relationship between phenyl alanine metabolism and the differentiation of neural crest cells

1955 • 45 citations

A possible mechanism for disturbance in tyrosine metabolism in phenylpyruvic oligophrenia.

1955 • 44 citations

TOXICITY OF PHENYLACETIC ACID

1919 • 43 citations

Studies on phenylketonuria. III. The metabolism of o-tyrosine.

1955 • 39 citations

DIMINISHED PHENYLKETONURIA IN PHENYLPYRUVIC OLIGOPHRENIA AFTER ADMINISTRATION OF L-GLUTAMINE, L-GLUTAMATE OR L-ASPARAGINE1

1956 • 38 citations

Abnormality of hemoglobin molecules in hereditary hemolytic anemias.

1953 • 38 citations

Excretion of conjugated phenylacetic acid in phenylketonuria.

1951 • 38 citations

DILUTION OF HAIR COLOUR IN PHENYLKETONURIA

1949 • 36 citations

AUTONOMIC CHANGES PARALLELING PSYCHOLOGIC CHANGES IN MENTALLY ILL PATIENTS

1951 • 36 citations

STUDIES ON PHENYLKETONURIA

1955 • 35 citations

METABOLIC INVESTIGATIONS ON A CASE OF PHENYLPYRUVIC OLIGOPHRENIA

1938 • 34 citations

Estimation of Phenylpyruvic Acid

1952 • 32 citations

CEREBRAL METABOLISM IN MONGOLIAN IDIOCY AND PHENYLPYRUVIC OLIGOPHRENIA

1940 • 31 citations

Über das Vorkommen von 1-Phenylalanin in Harn und Blut bei Imbecillitas phenylpyrouvica.

1938 • 26 citations

THE ROLE OF PHENYLALANINE IN THE DIFFERENTIATION OF NEURAL CREST CELLS

1955 • 25 citations

The Effects of a Phenylalanine-Free and Phenylalanine-Poor Diet in Phenylpyruvic Oligophrenia

2015 • 25 citations

A Case of Phenylketonuria with Borderline Intelligence

1957 • 24 citations

THE MAXIMUM PRODUCTION OF GLUTAMINE BY THE HUMAN BODY AS MEASURED BY THE OUTPUT OF PHENYLACETYLGLUTAMINE

1919 • 23 citations

The decarboxylation of o-hydroxyphenylalanine

1949 • 21 citations

Phenylpyruvic oligophrenia in a jewish child

1949 • 21 citations

STUDIES ON OLIGOPHRENIA PHENYLPYRUVICA

1949 • 20 citations

COMPARATIVE METABOLISM OF CERTAIN AROMATIC ACIDS

1923 • 18 citations

Die Oligophrenia phenylpyruvica

1957 • 17 citations

Spontanausscheidung von p-Oxyphenylbrenztraubens�ure im Harn

1954 • 17 citations

Studies on Phenylketonuria IV. Serum Proteins in Phenylketonuria.

1955 • 15 citations

Inborn Errors of Metabolism

2001 • 14 citations

COMPARATIVE METABOLISM OF CERTAIN AROMATIC ACIDS

1917 • 14 citations

PHENYLKETONURIA

1954 • 13 citations

Phenylketonuria; a case report in a European child treated with a diet low in phenylalanine.

1956 • 11 citations

CEREBRAL ARTERIOVENOUS OXYGEN DIFFERENCE

1944 • 9 citations

Ausscheidung von nach belastung mit beim kaninchen

1952 • 9 citations

PHENYLPYRUVIC OLIGOPHRENIA

1949 • 9 citations

Diagnosis and therapy of galactosemia and phenylketonuria

1955 • 6 citations

Urinary phenolic acid excretion in phenylketonuria.

1955 • 4 citations

Unspecific hydroxylation reactions in the metabolism of aromatic amino acids.

1954 • 3 citations

QUERIES AND MINOR NOTES

1956 • 1 citations

ANNOTATIONS

1955 • 1 citations