The acute porphyrias

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Hepatology. A Textbook of Liver Disease

1990 • 638 citations

ACUTE INTERMITTENT PORPHYRIA

1970 • 257 citations

The porphyrias as inborn errors of metabolism

1957 • 240 citations

Prognosis of Acute Prophyria

1992 • 236 citations

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

1996 • 214 citations

Early Administration of Heme Arginate for Acute Porphyric Attacks

1993 • 184 citations

Acute intermittent porphyria: a study of 50 cases.

1959 • 174 citations

Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria

1996 • 157 citations

A Plasma Porphyrin Fluorescence Marker for Variegate Porphyria

1980 • 157 citations

Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria

1997 • 147 citations

Disorders of Porphyrin Metabolism.

1988 • 141 citations

Disorders of Porphyrin Metabolism

1987 • 125 citations

High prevalence of intermittent acute porphyria in a psychiatric patient population

1985 • 117 citations

George III and the Mad-business

1970 • 104 citations

Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene

1995 • 104 citations

Hepatology: A textbook of liver disease

1991 • 100 citations

Laboratory Investigation of the Porphyrias

1990 • 98 citations

A Gonadotropin Releasing Hormone Analogue Prevents Cyclical Attacks of Porphyria

1990 • 91 citations

The clinical and biochemical features of variegate porphyria: An analysis of 300 cases studied at Groote Schuur Hospital, Cape Town

1980 • 88 citations

CONTROLLED TRIAL OF HAEM ARGINATE IN ACUTE HEPATIC PORPHYRIA

1989 • 81 citations

The three‐dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria

1994 • 78 citations

George III and the Mad-Business

1971 • 77 citations

Hereditary Hepatic Porphyrias in Finland

1976 • 75 citations

Hypertension and renal impairment as complications of acute porphyria

1992 • 74 citations

The Porphyrias: A Story of Inheritance and Environment.

1972 • 73 citations

Anaesthesia for the porphyric patient

1993 • 72 citations

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.

1994 • 67 citations

The Porphyrias: A Story of Inheritance and Environment

1964 • 66 citations

L-Tryptophan: A Common Denominator of Biochemical and Neurological Events of Acute Hepatic Porphyria?

1983 • 64 citations

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

1992 • 63 citations

Homozygous variegate porphyria: an evolving clinical syndrome

1993 • 61 citations

Porphyrias, porphyrins and hepatocellular cancer

1986 • 61 citations

Acute intermittent porphyria and mental illness ? a family study

1994 • 52 citations

Smoking and recurrent attacks of acute intermittent porphyria.

1991 • 51 citations

Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat.

1996 • 51 citations

Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria

1993 • 49 citations

Vincent van Gogh: Chemicals, Crises and Creativity

1992 • 48 citations

Molecular genetics of disorders of haem biosynthesis.

1993 • 42 citations

Diagnosis and therapy of acute intermittent porphyria

1996 • 41 citations

Frequency of low erythrocyte porphobilinogen deaminase activity in Finland*

1992 • 40 citations

The Treatment of Acute Intermittent Porphyria with Laevulose

1977 • 35 citations

Porphobilinogen deaminase gene structure and molecular defects

1995 • 35 citations

CHESTER PORPHYRIA: BIOCHEMICAL STUDIES OF A NEW FORM OF ACUTE PORPHYRIA

1985 • 35 citations

De-novo mutation and sporadic presentation of acute intermittent porphyria

1995 • 27 citations

Nutrition management of acute intermittent porphyria.

1994 • 26 citations

Safety of general anaesthesia and surgery in acute hepatic porphyria.

1994 • 24 citations

Molecular basis of acute intermittent porphyria

1995 • 22 citations

Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria

1995 • 20 citations

Drug therapy in the acute porphyrias

1985 • 20 citations

The maddening business of King George III and porphyria

1996 • 18 citations

Vincent van Gogh: Chemicals, Crises and Creativity

1993 • 7 citations

[Acute hepatic porphyria and its neurological syndrome].

1996 • 6 citations

Diagnosis and management of liver disease

1995 • 6 citations

Diagnosis and Management of Liver Disease

1995 • 4 citations