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International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Genetics in medicine, 2019-11, Vol.21 (11), p.2605-2613

2019

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Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals

Journal of internal medicine, 2022-06, Vol.291 (6), p.824-836

2022

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Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients

Journal of inherited metabolic disease, 2023-11, Vol.46 (6), p.1186-1194

2023

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Cancer risk in acute hepatic porphyria: a nationwide matched cohort study in 1, 245 individuals

JOURNAL OF HEPATOLOGY, 2022, Vol.77, p.S530

2022

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Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.286-299

2023

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AS086 - Primary liver cancer in acute hepatic porphyria: a national cohort study

Journal of hepatology, 2020-08, Vol.73, p.S63-S63

2020

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A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?

Journal of dermatological science, 2011-01, Vol.61 (1), p.75-77

2011

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

Journal of human genetics, 2003-01, Vol.48 (2), p.70-76

2003

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Primary liver cancer in acute hepatic porphyria: a national cohort study

JOURNAL OF HEPATOLOGY, 2020, Vol.73, p.S63

2020

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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

American journal of human genetics, 2023-10, Vol.110 (10), p.1769-1786

2023

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Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria

Journal of human genetics, 2002-01, Vol.47 (8), p.407-412

2002

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Variations in Porphobilinogen and 5-Aminolevulinic Acid Concentrations in Plasma and Urine from Asymptomatic Carriers of the Acute Intermittent Porphyria Gene with Increased Porphyrin Precursor Excretion

Clinical chemistry (Baltimore, Md.), 2006-04, Vol.52 (4), p.701-707

2006

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Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks

European journal of internal medicine, 2009-03, Vol.20 (2), p.201-207

2009

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

Clinical genetics, 2002-10, Vol.62 (4), p.288-297

2002

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Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria

Clinical genetics, 2003-08, Vol.64 (2), p.122-130

2003

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The prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden

Acta dermato-venereologica, 2005, Vol.85 (2), p.164-166

2005

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Highly heterogeneous nature of δ-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria

Blood, 2001-05, Vol.97 (10), p.2972-2978

2001

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Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W

Disease markers, 2003-01, Vol.19 (1), p.41-46

2003

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Alcoholic Beverages in Acute Porphyria

Journal of studies on alcohol and drugs, 1992-05, Vol.53 (3), p.272

1992

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Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria

Journal of medical genetics, 1995-12, Vol.32 (12), p.979-981

1995

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Effects of administration of antioxidants in acute intermittent porphyria

European journal of clinical chemistry and clinical biochemistry, 1997, Vol.35 (6), p.427

1997

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Porphyrin status in aluminum foundry workers exposed to hexachlorobenzene and octachlorostyrene

Archives of environmental & occupational health, 1999-07, Vol.54 (4), p.248

1999

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Markers for vulnerability in acute porphyria. A hypothesis paper

European journal of clinical chemistry and clinical biochemistry, 1995, Vol.33 (4), p.179

1995

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Porphobilinogen deaminase in acute intermittent porphyria: activity and concentration in erythrocytes and lymphocytes

Clinica chimica acta, 1991-02, Vol.197 (1), p.77-84

1991

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The Inheritance of human erythrocyte catechol-O-methyltransferase activity

Clinical genetics, 1981-05, Vol.19 (5), p.392-395

1981

Volltextzugriff (PDF)

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International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals

Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients

Cancer risk in acute hepatic porphyria: a nationwide matched cohort study in 1, 245 individuals

Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals

AS086 - Primary liver cancer in acute hepatic porphyria: a national cohort study

A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?

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

Primary liver cancer in acute hepatic porphyria: a national cohort study

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria

Variations in Porphobilinogen and 5-Aminolevulinic Acid Concentrations in Plasma and Urine from Asymptomatic Carriers of the Acute Intermittent Porphyria Gene with Increased Porphyrin Precursor Excretion

Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks

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

Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria

The prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden

Highly heterogeneous nature of δ-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria

Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W

Alcoholic Beverages in Acute Porphyria

Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria

Effects of administration of antioxidants in acute intermittent porphyria

Porphyrin status in aluminum foundry workers exposed to hexachlorobenzene and octachlorostyrene

Markers for vulnerability in acute porphyria. A hypothesis paper

Porphobilinogen deaminase in acute intermittent porphyria: activity and concentration in erythrocytes and lymphocytes

The Inheritance of human erythrocyte catechol-O-methyltransferase activity

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