Porphyrias (Q83185413)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

review article

1 reference

title

Porphyrias (English)

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19 January 2020

2

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19 January 2020

author name string

Hervé Puy

series ordinal

1

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19 January 2020

Jean-Charles Deybach

series ordinal

3

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19 January 2020

language of work or name

English

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publication date

1 March 2010

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19 January 2020

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19 January 2020

volume

375

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19 January 2020

issue

9718

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19 January 2020

page(s)

924-937

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Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Drugs mediate the transcriptional activation of the 5-aminolevulinic acid synthase (ALAS1) gene via the chicken xenobiotic-sensing nuclear receptor (CXR).

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

The little imitator--porphyria: a neuropsychiatric disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Biochemical differentiation of the porphyrias.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Acute porphyrias: pathogenesis of neurological manifestations

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Experimental Porphyric Neuropathy: A Preliminary Report

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Liver transplantation as a cure for acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Identification of the xenosensors regulating human 5-aminolevulinate synthase

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Smoking and recurrent attacks of acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Peroxisome proliferator-activated receptor alpha controls hepatic heme biosynthesis through ALAS1.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Recommendations for the diagnosis and treatment of the acute porphyrias

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Physicochemical properties, pharmacokinetics, and pharmacodynamics of intravenous hematin: a literature review

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Reconstitution of hematin for intravenous infusion

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Treatment of an acute attack of porphyria during pregnancy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Can pregnancy stop cyclical attacks of porphyria?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Liver transplantation for porphyria: who, when, and how?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Alcohol and porphyrin metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Hypertension and renal disease in patients with acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Acute hepatic porphyria and hepatocellular carcinoma

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Acute hepatic porphyrias and primary liver cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

The cutaneous porphyrias: a review. The British Photodermatology Group

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Ocular complications in 2 cases with porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Skin morphology in porphyria cutanea tarda does not improve despite clinical remission

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Histologic and immunofluorescence study of cutaneous porphyrias.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Porphyria cutanea tarda

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Identification of a group of tetracarboxylate porphyrins, containing one acetate and three propionate -substituents, in faeces from patients with symptomatic cutaneous hepatic porphyria and from rats with porphyria due to hexachlorobenzene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Familial and sporadic porphyria cutanea: two different diseases.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Prevalence of hepatitis C virus infection in porphyria cutanea tarda: systematic review and meta-analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

The frequency of hemochromatosis-associated alleles is increased in British patients with sporadic porphyria cutanea tarda

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Down-regulation of hepcidin in porphyria cutanea tarda

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Hepatocellular carcinoma risk in patients with porphyria cutanea tarda

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Dermatologic conditions seen in end-stage renal disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Porphyria, pseudoporphyria, pseudopseudoporphyria...?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

The management of porphyria cutanea tarda

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Diagnosis and treatment of the hepatic porphyrias

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Effects of chloroquine in hematoporphyrin-treated animals

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Low-dose oral chloroquine in patients with porphyria cutanea tarda and low-moderate iron overload

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Erythropoietin for the treatment of porphyria cutanea tarda in a patient on long-term hemodialysis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Diagnosis and management of the erythropoietic porphyrias

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Erythropoietic protoporphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Liver disease in erythropoietic protoporphyria: insights and implications for management

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Liver transplantation for erythropoietic protoporphyria liver disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Congenital erythropoietic porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Molecular genetics of congenital erythropoietic porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Congenital erythropoietic porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Uroporphyrinogen decarboxylase

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Molecular characterization of homozygous variegate porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

ALAD porphyria is a conformational disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5

7 January 2021

10.1016/S0140-6736(09)61925-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference