Update review of the acute porphyrias (Q39041104)

8 September 2017

Update review of the acute porphyrias (English)

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8 September 2017

Penelope E Stein

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8 September 2017

Michael N Badminton

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2

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8 September 2017

David C Rees

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3

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8 September 2017

language of work or name

English

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publication date

16 December 2016

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British Journal of Haematology

8 September 2017

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8 September 2017

176

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8 September 2017

4

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8 September 2017

527-538

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

8 September 2017

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Biosynthesis of heme in mammals

21 January 2018

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

21 January 2018

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Open-label study of hemin for acute porphyria: clinical practice implications

21 January 2018

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Studies in porphyria. VIII. Relationship of the 5 alpha-reductive metabolism of steroid hormones to clinical expression of the genetic defect in acute intermittent porphyria

21 January 2018

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Recommendations for the diagnosis and treatment of the acute porphyrias

21 January 2018

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

21 January 2018

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

21 January 2018

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Treatment of an acute attack of porphyria during pregnancy

21 January 2018

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Molecular mechanisms of dominant expression in porphyria

21 January 2018

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

21 January 2018

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21 January 2018

Acute Hepatic Porphyria

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Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium

21 January 2018

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Repression of the Overproduction of Porphyrin Precursors in Acute Intermittent Porphyria by Intravenous Infusions of Hematin

21 January 2018

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?-Aminolaevulinic acid and amino acid neurotransmitters

21 January 2018

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

21 January 2018

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Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification

21 January 2018

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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

21 January 2018

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Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria

21 January 2018

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Alcohol and porphyrin metabolism

21 January 2018

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

21 January 2018

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The incidence of inherited porphyrias in Europe

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Drugs in porphyria: From observation to a modern algorithm-based system for the prediction of porphyrogenicity

21 January 2018

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A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the 'Royal Malady'.

21 January 2018

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

21 January 2018

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Evaluation of gonadotropin-releasing hormone agonist treatment for prevention of menstrual-related attacks in acute porphyria

21 January 2018

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The association of depression and anxiety with medical symptom burden in patients with chronic medical illness

21 January 2018

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Acute hepatic porphyria and hepatocellular carcinoma

21 January 2018

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

21 January 2018

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

21 January 2018

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Purple pigments: the pathophysiology of acute porphyric neuropathy.

21 January 2018

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Smoking and recurrent attacks of acute intermittent porphyria

21 January 2018

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The "insanity" of King George 3d: a classic case of porphyria

21 January 2018

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Rhabdomyolysis in a patient with acute intermittent porphyria

21 January 2018

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A retrospective analysis of outcome of pregnancy in patients with acute porphyria

21 January 2018

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Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms.

21 January 2018

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

21 January 2018

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

21 January 2018

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Anxiety and depression in the acute porphyrias.

21 January 2018

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Harderoporphyria: a variant hereditary coproporphyria

21 January 2018

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High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

21 January 2018

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Acute intermittent porphyria and mental illness--a family study.

21 January 2018

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A systematic review of reviews on the prevalence of anxiety disorders in adult populations

21 January 2018

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Molecular characterization of homozygous variegate porphyria

21 January 2018

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Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion.

21 January 2018

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

21 January 2018

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21 January 2018

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Modern diagnosis and management of the porphyrias

21 January 2018

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

21 January 2018

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

21 January 2018

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Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias

21 January 2018

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Liver transplantation as a cure for acute intermittent porphyria

21 January 2018

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Acute intermittent porphyria: fatal complications of treatment.

21 January 2018

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Best practice guidelines on clinical management of acute attacks of porphyria and their complications

21 January 2018

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

21 January 2018

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Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up.

21 January 2018

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Porphyrins, porphyrin metabolism and porphyrias. I. Update

21 January 2018

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

21 January 2018

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Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study

21 January 2018

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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

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

21 January 2018

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Best practice guidelines on first-line laboratory testing for porphyria.

21 January 2018

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Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/BJH.14459

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8 September 2017

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