Heterogeneity of Acute Intermittent Porphyria: A Subtype with Normal Erythrocyte Porphobilinogen Deaminase Activity in Germany

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

Hydroxymethylbilane Synthase: Complete Genomic Sequence and Amplifiable Polymorphisms in the Human Gene

1993 • 104 citations

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

1989 • 73 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

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

1995 • 54 citations

B. Porphyrins and Porphyrin Precursors

1974 • 46 citations

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

1985 • 45 citations

Hepatic porphyrias: pathobiochemical, diagnostic, and therapeutic implications.

1982 • 39 citations

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

1985 • 29 citations

Denaturing Gradient Gel Electrophoresis for Rapid Detection of Latent Carriers of a Subtype of Acute Intermittent Porphyria with Normal Erythrocyte Porphobilinogen Deaminase Activity

1992 • 28 citations

Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

1995 • 20 citations

Variations in erythrocyte uroporphyrinogen I synthetase activity in non porphyrias

1978 • 19 citations

Uroporphyrinogen-Synthase in Erythrocyten bei akuter intermittierender Porphyrie: Neue pathobiochemische Aspekte

1978 • 13 citations