Back to search

Frequency of low erythrocyte porphobilinogen deaminase activity in Finland*

Data up to Jan 2025

Published1992
Citations40
References26

Total Citations Per Year

Abstract

References (26)

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

High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency

1986 • 518 citations

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

1988 • 313 citations

The Finnish population structure A genetic and genealogical study

2009 • 266 citations

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

1972 • 220 citations

Tissue‐specific expression of porphobilinogen deaminase

1987 • 209 citations

Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias

1984 • 205 citations

Pathophysiology of heme synthesis.

1988 • 148 citations

Acute Intermittent Porphyria: Clinical and Selected Research Aspects

1975 • 141 citations

Tissue-specific splicing mutation in acute intermittent porphyria.

1989 • 122 citations

High prevalence of intermittent acute porphyria in a psychiatric patient population

1985 • 117 citations

Hereditary Hepatic Porphyrias in Finland

1976 • 75 citations

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

1981 • 65 citations

Variegate Porphyria<subtitle>TWELVE YEARS' EXPERIENCE IN FINLAND</subtitle>

1980 • 46 citations

Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.

1985 • 45 citations

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

1979 • 45 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

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

1985 • 29 citations

Variations in erythrocyte uroporphyrinogen I synthetase activity in non porphyrias

1978 • 19 citations

ELISA for measuring porphobilinogen deaminase in human erythrocytes

1989 • 16 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

Determination of erythrocyte uroporphyrinogen I synthetase activity in chronic renal failure

1980 • 5 citations

Porphobilinogen deaminase in acute intermittent porphyria: activity and concentration in erythrocytes and lymphocytes

1991 • 3 citations

Cited By (0)

No citing papers found in database

Frequency of low erythrocyte porphobilinogen deaminase activity in Finland* (1992) – Journal of Internal Medicine | Metascience Observatory Explorer