Variable phenotypic expression of genotypic abnormalities in the porphyrias

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

OBSTETRIC DELIVERY TODAY

1976 • 419 citations

δ-Aminolevulinic Acid Synthetase

1966 • 289 citations

Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts.

1975 • 244 citations

Prognosis of Acute Prophyria

1992 • 236 citations

Tissue‐specific expression of porphobilinogen deaminase

1987 • 209 citations

Loss of haem in rat liver caused by the porphyrogenic agent 2-allyl-2-isopropylacetamide

1971 • 184 citations

Familial and sporadic porphyria cutanea

1978 • 181 citations

Disorders of Porphyrin Metabolism.

1988 • 141 citations

The inherited enzymatic defect in porphyria variegata

1981 • 127 citations

HEPATOERYTHROPOIETIC PORPHYRIA: A NEW UROPORPHYRINOGEN DECARBOXYLASE DEFECT OR HOMOZYGOUS PORPHYRIA CUTANEA TARDA?

1981 • 124 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

Factors affecting the excretion of porphyrin precursors by patients with acute intermittent porphyria I. The effect of diet

1964 • 121 citations

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

1991 • 109 citations

Harderoporphyria: a variant hereditary coproporphyria.

1983 • 91 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

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

Assignment of human porphobilinogen deaminase to 11q24.1→q24.2 by in situ hybridization and gene dosage studies

1991 • 63 citations

Apocytochrome P-450: reconstitution of functional cytochrome with hemin in vitro.

1975 • 62 citations

Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.

1981 • 62 citations

Clinical Biochemistry of Alcoholism

1985 • 53 citations

Factors affecting the excretion of porphyrin precursors by patients with acute intermittent porphyria. II. The effect of ethinyl estradiol

1964 • 53 citations

Stimulation of the pathway of porphyrin synthesis in the liver of rats and mice by griseofulvin, 3,5-Diethoxycarbonyl-1,4-dihydrocollidine and related drugs: evidence for two basically different mechanisms

1975 • 53 citations

delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.

1991 • 51 citations

DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA

1987 • 49 citations

Studies in porphyria

1979 • 48 citations

Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects

1989 • 48 citations

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

1991 • 47 citations

Alterations in Haem Biosynthesis during the Human Menstrual Cycle: Studies in Normal Subjects and Patients with Latent and Active Acute Intermittent Porphyria

1982 • 45 citations

Progesterone-induced porphyria

1957 • 44 citations

DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria

1988 • 38 citations

Acute intermittent porphyria caused by a C?T mutation that produces a stop codon in the porphobilinogen deaminase gene

1990 • 38 citations

Induction of hepatic cytochrome P-450 by natural steroids: Relationship to the induction of δ-aminolevulinate synthase and porphyrin accumulation in the avian embryo

1982 • 34 citations

A retrospective study of a patient with homozygous form of acute intermittent porphyria

1989 • 34 citations

New type of acute porphyria with porphobilinogen synthase (δ-aminolevulinic acid dehydratase) defect in the homozygous state

1982 • 32 citations

Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria

1991 • 30 citations

Molecular Genetics of Porphyries

1990 • 25 citations

Effect of alcohol on δ-aminolevulinic acid dehydratase and porphyrin metabolism in man

1991 • 25 citations

Induction of a deficiency of steroid delta 4-5 alpha-reductase activity in liver by a porphyrinogenic drug.

1977 • 24 citations

Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity

1990 • 23 citations

RFLP analysis of three different types of acute intermittent porphyria

1990 • 21 citations

Brown amiotic fluid in congenital erythropoietic porphyria.

1980 • 19 citations

Linkage between the variegate porphyria (VP) and the alpha-1-antitrypsin (PI) genes on human chromosome 14

1988 • 17 citations

Effect of glucose on the induction of δ-aminolevulinic acid synthase and ferrochelatase in isolated rat hepatocytes by allylisopropylacetamide

1984 • 17 citations

Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction

1990 • 16 citations

Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene

1990 • 15 citations

Sulfonamide inhibition of rat hepatic uroporphyrinogen I synthetase activity and the biosynthesis of heme

1980 • 13 citations

The effects of alcohol on porphyrin biosynthesis and metabolism.

1984 • 9 citations

Molecular analysis of acute intermittent porphyria

1988 • 7 citations

Deleted Work

1955 • 0 citations