The incidence of inherited porphyrias in Europe (Q34309198)

1 August 2017

The incidence of inherited porphyrias in Europe (English)

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1 August 2017

George Elder

1

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1 August 2017

Pauline Harper

2

1 reference

1 August 2017

Michael Badminton

3

1 reference

1 August 2017

Sverre Sandberg

4

1 reference

1 August 2017

Jean-Charles Deybach

5

1 reference

1 August 2017

1 November 2012

1 reference

Journal of Inherited Metabolic Disease

1 August 2017

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1 August 2017

36

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1 August 2017

5

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1 August 2017

849-857

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https://scigraph.springernature.com/pub.10.1007/s10545-012-9544-4

1 August 2017

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cites work

European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Screening for hepatocellular carcinoma in acute intermittent porphyria: a 15-year follow-up in northern Sweden.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Acute hepatic porphyria and hepatocellular carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Rare diseases epidemiology research.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Erythropoietic protoporphyria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

A simple method to calculate the confidence interval of a standardized mortality ratio (SMR)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Genetic aspects of erythropoietic protoporphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9544-4

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Porphyria--the UCT experience.

1 reference

12 December 2020

The molecular genetics of erythropoietic protoporphyria.

1 reference

12 December 2020

Variegate porphyria. Twelve years' experience in Finland.

1 reference

12 December 2020

Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France

1 reference

12 December 2020

Hepatocellular Carcinoma in Patients with Acute Intermittent Porphyria

1 reference

12 December 2020

Hepatocellular carcinoma without cirrhosis: think acute hepatic porphyrias and vice versa

1 reference

12 December 2020

Hereditary coproporphyria

1 reference

12 December 2020

Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase

1 reference

12 December 2020

Hereditary hepatic porphyrias in Finland

1 reference

12 December 2020

1 reference

12 December 2020

Porphyria in Switzerland, 15 years experience

1 reference

12 December 2020

10.1007/S10545-012-9544-4

Identifiers

DOI

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Dimensions Publication ID

1 August 2017

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1 reference