Erythropoietic and hepatic porphyrias

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

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

1988 • 313 citations

Hepatitis C virus and porphyria cutanea tarda: Evidence of a strong association

1992 • 298 citations

Prognosis of Acute Prophyria

1992 • 236 citations

Early Administration of Heme Arginate for Acute Porphyric Attacks

1993 • 184 citations

The acute porphyrias

1997 • 176 citations

Erythropoietic protoporphyria

1994 • 165 citations

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

1979 • 155 citations

Hepatitis C virus antibodies and liver disease in patients with porphyria cutanea tarda

1993 • 155 citations

Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation

1999 • 147 citations

A zebrafish model for hepatoerythropoietic porphyria

1998 • 146 citations

Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria

1998 • 132 citations

Hepatobiliary implications and complications in protoporphyria, a 20-year study

1989 • 129 citations

Neurologic Manifestations of Acute Porphyria

1982 • 117 citations

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

1991 • 116 citations

The liver in protoporphyria

1988 • 115 citations

Porphyria cutanea tarda and antibodies to hepatitis C virus

1993 • 113 citations

The prooxidant effect of 5-aminolevulinic acid in the brain tissue of rats: Implications in neuropsychiatric manifestations in porphyrias

1996 • 110 citations

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

1991 • 109 citations

Low prevalence of hepatitis C virus infection in porphyria cutanea tarda in germany

1995 • 96 citations

A Gonadotropin Releasing Hormone Analogue Prevents Cyclical Attacks of Porphyria

1990 • 91 citations

Biochemistry of porphyria

1993 • 85 citations

Hepatitis C virus‐related autoimmunity in patients with porphyria cutanea tarda

1993 • 83 citations

Hepatic porphyrias in children

1997 • 79 citations

ALAD Porphyria

1998 • 77 citations

Acute Intermittent Porphyria

1998 • 77 citations

Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

1996 • 74 citations

Uroporphyrinogen decarboxylase

1995 • 73 citations

Hepatic complications of erythropoietic protoporphyria*

1998 • 73 citations

Liver transplantation in a patient with protoporphyria

1989 • 73 citations

International review of drugs in acute porphyria—1980

1980 • 72 citations

Hereditary Coproporphyria

1998 • 71 citations

Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria.

1993 • 69 citations

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.

1990 • 69 citations

Correction of congenital erythropoietic porphyria by bone marrow transplantation

1996 • 67 citations

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

1983 • 64 citations

Instability of Hematin Used in the Treatment of Acute Hepatic Porphyria

1986 • 64 citations

Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.

1992 • 62 citations

High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

1993 • 61 citations

Evidence for neurological dysfunction in end-stage protoporphyric liver disease

1993 • 60 citations

Drug treatment in acute porphyria

1997 • 60 citations

THE EFFECT OF LIVER TRANSPLANTATION IN A 13-YEAR-OLD BOY WITH ERYTHROPOIETIC PROTOPORPHYRIA

1988 • 60 citations

Liver transplantation for protoporphyria. Evidence for the predominant role of the erythropoietic tissue in protoporphyrin overproduction.

1988 • 59 citations

Follow-up after liver transplantation for protoporphyric liver disease

1996 • 57 citations

Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles

1998 • 57 citations

Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda

1993 • 57 citations

Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease).

1996 • 56 citations

Liver Transplantation for Protoporphyria

1988 • 54 citations

Porphyrinurias and Occupational Disease^a

1987 • 51 citations

LHRH analogues for hormonal manipulation in acute intermittent porphyria.

1989 • 48 citations

Erythropoietic protoporphyria and hepatic complications

1992 • 47 citations

Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure

1995 • 44 citations

Treatment of the Porphyrias

1994 • 43 citations

5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up

1998 • 41 citations

Diagnosis and therapy of acute intermittent porphyria

1996 • 41 citations

Frequency of low erythrocyte porphobilinogen deaminase activity in Finland*

1992 • 40 citations

Hepatocellular carcinoma in patients from northern Sweden with acute intermittent porphyria: morphology and mutations.

1996 • 38 citations

Erythrocyte uropophyrinogen decarboxylase activity in porphyria cutanea tarda: A study of 40 consecutive patients

1989 • 37 citations

Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication

1985 • 34 citations

Liver failure in erythropoietic protoporphyria associated with choledocholithiasis and severe post‐transplantation polyneuropathy

1996 • 33 citations

RECURRENT HEPATIC ALLOGRAFT INJURY IN ERYTHROPOIETIC PROTOPORPHYRIA1

1996 • 33 citations

Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria

1997 • 33 citations

Laboratory Medicine: The Selection and Interpretation of Clinical Laboratory Studies

1994 • 33 citations

Fecal Coproporphyrin Isomers in Hereditary Coproporphyria

1992 • 32 citations

Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria

1998 • 31 citations

Detection of a R173W Mutation in the Porphobilinogen Deaminase Gene in the Nova Scotian “Foreign Protestant” Population with Acute Intermittent Porphyria: a Founder Effect

1997 • 31 citations

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria

1992 • 31 citations

Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

1998 • 30 citations

Four Novel Mutations in the Ferrochelatase Gene among Erythropoietic Protoporphyria Patients

1996 • 30 citations

Clinical Features of the Porphyrias

1998 • 28 citations

Relationships between acute hepatic porphyrias due to genetic variability of primary enzyme defects and limiting function of uroporphyrinogen synthase

1978 • 28 citations

Congenital Erythropoietic Porphyria: Prolonged High-Level Expression and Correction of the Heme Biosynthetic Defect by Retroviral-Mediated Gene Transfer into Porphyric and Erythroid Cells

1998 • 27 citations

Nutrition management of acute intermittent porphyria.

1994 • 26 citations

Hormonal Oral Contraceptives, Urinary Porphyrin Excretion and Porphyrias

1995 • 25 citations

C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

1998 • 24 citations

Lebertransplantation bei erythrohepatischer Protoporphyrie

2008 • 24 citations

Markers for Vulnerability in Acute Porphyria. A Hypothesis Paper

1995 • 24 citations

Studies on coproporphyrin isomers in urine and feces in the porphyrias

1999 • 23 citations

Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease)

1997 • 22 citations

δ‐aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency

1986 • 22 citations

Porphyria in childhood

1995 • 19 citations

Erythrohepatische Protoporphyrie mit rasch progredienter Leberzirrhose

2008 • 19 citations

Variations in erythrocyte uroporphyrinogen I synthetase activity in non porphyrias

1978 • 19 citations

Terminal hepatic failure in erythropoietic protoporphyria

1993 • 17 citations

Sn-protoporphyrin suppresses chemically induced experimental hepatic porphyria. Potential clinical implications.

1985 • 17 citations

A novel stop codon mutation (X417L) of the ferrochelatase gene in bovine protoporphyria, a natural animal model of the human disease

1998 • 17 citations

Steady-State Transcript Levels of the Porphobilinogen Deaminase Gene in Patients with Acute Intermittent Porphyria

1997 • 16 citations

Porphyrias in Children

1992 • 15 citations

Coexistence of Deficiencies of Uroporphyrinogen III Synthase and Decarboxylase in a Patient with Congenital Erythropoietic Porphyria and in His Family

1997 • 15 citations

Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing

1995 • 15 citations

Mutation Screening by Denaturing Gradient Gel Electrophoresis in North American Patients with Acute Intermittent Porphyria

1998 • 14 citations

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

1996 • 13 citations

Porphyria cutanea tarda: Erythrocyte Uroporphyrinogen Decarboxylase Activity in 471 Consecutive Patients1

2015 • 13 citations

Compound Heterozygous Hereditary Coproporphyria with Fluorescing Teeth

1999 • 13 citations

[Liver cirrhosis in protoporphyria: bile acid therapy and liver transplantation].

1995 • 12 citations

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria

1999 • 11 citations

Liver involvement in erythropoietic protoporphyria (EP)

1980 • 10 citations

Molecular genetics of erythropoietic protoporphyria

1998 • 9 citations

Prevention and treatment of acute porphyric attacks.

1985 • 8 citations

Erythrohepatische Protoporphyrie: Eine seltene Differentialdiagnose des parenchymatösen Ikterus

1995 • 7 citations

Variable phenotypic expression of genotypic abnormalities in the porphyrias

1993 • 7 citations

[Gastroenterologic and neurologic manifestations in acute intermittent porphyria].

1987 • 4 citations

Hepatocellular carcinoma in patients from northern Sweden with acute intermittent porphyria: Morphology and mutations

1996 • 2 citations

[Cumulative manifestations of acute intermittent porphyria].

1992 • 1 citations