Variant of acute intermittent porphyria with normal erythrocyte uroporphyrinogen‐I‐synthase activity

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

1956 • 1,554 citations

The Metabolic Basis of Inherited Disease

1983 • 757 citations

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

1972 • 220 citations

New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation

1979 • 155 citations

AN INVESTIGATION OF ‘PORPHYRIA CUTANEA TARDA’

1958 • 86 citations

Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria

1981 • 68 citations

Normal Erythrocyte Uroporphyrinogen I Synthase in a Kindred with Acute Intermittent Porphyria

1981 • 65 citations

Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.

1985 • 64 citations

Increased erythrocyte uroporphyrinogen-I-synthetase, δ-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias

1977 • 59 citations

Porphobilinogen Deaminase: Methods and Principles of the Enzymatic Assay

1982 • 42 citations

Assay for erythrocyte uroporphyrinogen I synthase activity, with porphobilinogen as substrate.

1980 • 34 citations

The Diagnosis of Acute Intermittent Porphyria: Usefulness and Limitations of the Erythrocyte Uroporphyrinogen I Synthase Assay

1981 • 30 citations

Excretion of porphyrins in urine and bile after the administration of delta-aminolevulinic acid.

1978 • 26 citations

Meme biosynthesis in sideroblastic anemia

1980 • 22 citations

New method for liquid-chromatographic measurement of erythrocyte protoporphyrin and coproporphyrin.

1980 • 22 citations

Red cell uroporphyrinogen I synthetase in acute intermittent porphyria.

1976 • 17 citations

Coproporphyrinogen oxidase activity and porphyrin concentrations in peripheral red blood cells in hereditary sideroblastic anaemia

1985 • 10 citations

Erythrocyte uroporphyrinogen-I-synthetase activity in acute intermittent porphyria.

1979 • 4 citations