Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

THE OCCURRENCE AND DETERMINATION OF δ-AMINOLEVULINIC ACID AND PORPHOBILINOGEN IN URINE

1956 • 1,554 citations

Prognosis of Acute Prophyria

1992 • 236 citations

Intermittent Acute Porphyria — Demonstration of a Genetic Defect in Porphobilinogen Metabolism

1972 • 220 citations

Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.

1994 • 157 citations

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1986 • 141 citations

Decreased Red Cell Uroporphyrinogen I Synthetase Activity in Intermittent Acute Porphyria

1972 • 131 citations

A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1989 • 123 citations

Tissue-specific splicing mutation in acute intermittent porphyria.

1989 • 122 citations

A Red Cell Enzyme Method for the Diagnosis of Acute Intermittent Porphyria

1974 • 120 citations

Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.

1991 • 109 citations

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

1989 • 73 citations

Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

1990 • 70 citations

Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.

1982 • 57 citations

URINARY δ—AMINOLÆVULIC ACID AND PORPHOBILINOGEN IN DIFFERENT TYPES OF PORPHYRIA

1958 • 53 citations

Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.

1979 • 45 citations

Evaluation of the chemical parameters of four systems of radioimmunological assay

1986 • 30 citations

ELISA for measuring porphobilinogen deaminase in human erythrocytes

1989 • 16 citations

Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene

1990 • 15 citations

Immunological determination of porphobilinogen deaminase as a diagnostic measure in acute intermittent porphyria.

1990 • 11 citations

Mutations in Acute Intermittent Porphyria Detected by ELISA Measurement of Porphobilinogen Deaminase

1989 • 7 citations

[International survey of safe and hazardous drugs in acute intermittent porphyria].

1976 • 4 citations