(Q34105114)

31 July 2017

1 reference

title

Erythropoietic and hepatic porphyrias (English)

1 reference

31 July 2017

Gross U

1

1 reference

31 July 2017

Hoffmann GF

series ordinal

2

1 reference

31 July 2017

Doss MO

series ordinal

3

1 reference

31 July 2017

publication date

1 November 2000

1 reference

Journal of Inherited Metabolic Disease

31 July 2017

published in

1 reference

31 July 2017

volume

23

1 reference

31 July 2017

issue

7

1 reference

31 July 2017

page(s)

641-661

1 reference

Porphyria cutanea tarda and antibodies to hepatitis C virus.

31 July 2017

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurologic manifestations of acute porphyria

1 reference

12 December 2020

Diagnosis and therapy of acute intermittent porphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

Drug treatment in acute porphyria

1 reference

12 December 2020

Frequency of low erythrocyte porphobilinogen deaminase activity in Finland

1 reference

12 December 2020

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

1 reference

12 December 2020

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation

1 reference

12 December 2020

Prognosis of liver transplantation in patients with erythropoietic protoporphyria

1 reference

12 December 2020

Follow-up after liver transplantation for protoporphyric liver disease

1 reference

12 December 2020

Variations in erythrocyte uroporphyrinogen I synthetase activity in non porphyrias

1 reference

12 December 2020

Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Compound heterozygous hereditary coproporphyria with fluorescing teeth

1 reference

12 December 2020

Liver involvement in erythropoietic protoporphyria (EP)

1 reference

12 December 2020

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

1 reference

12 December 2020

Liver transplantation in erythrohepatic protoporphyria

1 reference

12 December 2020

Variable phenotypic expression of genotypic abnormalities in the porphyrias

1 reference

12 December 2020

Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases

1 reference

12 December 2020

1 reference

12 December 2020

Erythropoietic protoporphyria.

1 reference

12 December 2020

Cumulative manifestations of acute intermittent porphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Porphyria cutanea tarda: erythrocyte uroporphyrinogen decarboxylase activity in 471 consecutive patients

1 reference

12 December 2020

Hepatic complications of erythropoietic protoporphyria

1 reference

12 December 2020

Molecular genetics of erythropoietic protoporphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

1 reference

12 December 2020

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria

1 reference

12 December 2020

The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria

1 reference

12 December 2020

Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical features of the porphyrias

1 reference

12 December 2020

Acute intermittent porphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

Recessive inheritance of erythropoietic protoporphyria with liver failure

1 reference

12 December 2020

Terminal hepatic failure in erythropoietic protoporphyria

1 reference

12 December 2020

delta-Aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Liver transplantation in a patient with protoporphyria.

1 reference

12 December 2020

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

1 reference

12 December 2020

Uroporphyrinogen decarboxylase

1 reference

12 December 2020

Erythropoietic protoporphyria and hepatic complications

1 reference

12 December 2020

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

1 reference

12 December 2020

Hepatitis C virus infection and porphyria cutanea tarda in Australasia

1 reference

12 December 2020

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

1 reference

12 December 2020

Hormonal Oral Contraceptives, Urinary Porphyrin Excretion and Porphyrias

1 reference

12 December 2020

1 reference

12 December 2020

Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda

1 reference

12 December 2020

Treatment of the porphyrias

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Markers for vulnerability in acute porphyria. A hypothesis paper.

1 reference

12 December 2020

A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyria

1 reference

12 December 2020

Hepatic porphyrias in children

1 reference

12 December 2020

International review of drugs in acute porphyria--1980.

1 reference

12 December 2020

The liver in protoporphyria

1 reference

12 December 2020

Erythrocyte uroporphyrinogen decarboxylase activity in porphyria cutanea tarda: a study of 40 consecutive patients

1 reference

12 December 2020

High prevalence of hepatitis C virus infection in patients with porphyria cutanea tarda in Poland

1 reference

12 December 2020

Erythrohepatic protoporphyria. A rare differential diagnosis of parenchymatous jaundice

1 reference

12 December 2020

Recurrent hepatic allograft injury in erythropoietic protoporphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemistry of porphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

A zebrafish model for hepatoerythropoietic porphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients

1 reference

12 December 2020

Instability of hematin used in the treatment of acute hepatic porphyria

1 reference

12 December 2020

Hereditary coproporphyria

1 reference

12 December 2020

Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles

1 reference

12 December 2020

L-tryptophan: a common denominator of biochemical and neurological events of acute hepatic porphyria?

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence for neurological dysfunction in end-stage protoporphyric liver disease

1 reference

12 December 2020

Fecal coproporphyrin isomers in hereditary coproporphyria

1 reference

12 December 2020

Prevention and treatment of acute porphyric attacks

1 reference

12 December 2020

Porphyrias in children

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria

1 reference

12 December 2020

Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte porphobilinogen deaminase activity in Germany

1 reference

12 December 2020

LHRH analogues for hormonal manipulation in acute intermittent porphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

Porphyria in childhood

1 reference

12 December 2020

Porphyrinurias and occupational disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation screening by denaturing gradient gel electrophoresis in North American patients with acute intermittent porphyria

1 reference

12 December 2020

Studies on coproporphyrin isomers in urine and feces in the porphyrias

1 reference

12 December 2020

[Gastroenterologic and neurologic manifestations in acute intermittent porphyria]

1 reference

12 December 2020

Nutrition management of acute intermittent porphyria

1 reference

12 December 2020

Drug safety in porphyria: risks of valproate and metoclopramide

1 reference

12 December 2020

Erythrohepatic protoporphyria with rapidly progressing liver cirrhosis

1 reference

12 December 2020

Coexistence of deficiencies of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and in his family

1 reference

12 December 2020

Correction of congenital erythropoietic porphyria by bone marrow transplantation

1 reference

12 December 2020

Early administration of heme arginate for acute porphyric attacks

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005645624262

1 reference

Dimensions Publication ID

31 July 2017

1015984773

0 references

1 reference