The acute hepatic porphyrias: Current status and future challenges

scientific article published on October 1, 2010

The acute hepatic porphyrias: Current status and future challenges is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.BPG.2010.08.010
P953full work available at URLhttps://api.elsevier.com/content/article/PII:S1521691810001071?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1521691810001071?httpAccept=text/plain
P698PubMed publication ID20955962

P2093author name stringJorge Frank
Pamela Poblete-Gutiérrez
Marko Siegesmund
Anne-Moniek van Tuyll van Serooskerken
P2860cites workCharacterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyriaQ24533469
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyriaQ28282782
Characterization of the heme synthesis enzyme coproporphyrinogen oxidase (CPO) in zebrafish erythrogenesisQ28312196
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chileQ31927593
The genetic bases of the porphyriasQ33644315
Variegate porphyria: past, present and futureQ33644320
The little imitator--porphyria: a neuropsychiatric disorderQ33735657
Early administration of heme arginate for acute porphyric attacksQ34061438
Recovery from a variegate porphyria by a liver transplantationQ34331539
Diagnosis and treatment of the acute porphyrias: an interdisciplinary challengeQ34399869
Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors.Q34509663
Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacementQ34520894
Aetiological aspects on primary liver cancer with special regard to alcohol, organic solvents and acute intermittent porphyria - an epidemiological investigationQ35991567
Acute hepatic porphyria and hepatocellular carcinomaQ36466461
Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population-based study in northern SwedenQ39392641
montalcino, A zebrafish model for variegate porphyriaQ40081754
Porphyrias: animal models and prospects for cellular and gene therapy.Q40433965
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Variegate porphyriaQ41727534
A retrospective analysis of outcome of pregnancy in patients with acute porphyriaQ43010126
Combined liver and kidney transplantation in acute intermittent porphyriaQ43211557
Linkage disequilibrium analysis in a recently founded population: evaluation of the variegate porphyria founder in South African AfrikanersQ43217326
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyriaQ43264943
Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyriaQ43298236
Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyriaQ43601208
Trends in mortality from hepatocellular carcinoma in Europe, 1980-2004.Q43905234
A mouse model for South African (R59W) variegate porphyria: construction and initial characterizationQ43944281
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene deliveryQ44577118
Treatment of an acute attack of porphyria during pregnancyQ44685865
Liver transplantation as a cure for acute intermittent porphyriaQ44786720
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in GermanyQ45012798
Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option?Q45094148
Effect of adeno-associated virus serotype and genomic structure on liver transduction and biodistribution in mice of both gendersQ45384822
Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study.Q46032688
Medical termination of pregnancy in acute intermittent porphyriaQ46973496
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 excretionQ51760055
The hepatic porphyrias: experience with 105 casesQ67875866
Instability of hematin used in the treatment of acute hepatic porphyriaQ69554140
Hepatocellular Carcinoma in Patients with Acute Intermittent PorphyriaQ70216270
Renal symptomatology in patients with acute intermittent porphyria. A population-based studyQ73210861
Acute Porphyria: Treatment with HemeQ74359774
NEUROLOGICAL MANIFESTATIONS OF ACUTE INTERMITTENT PORPHYRIAQ76644112
Unusual manifestation of acute hepatic porphyria in pregnancyQ79397566
PorphyriasQ83185413
P433issue5
P407language of work or nameEnglishQ1860
P304page(s)593-605
P577publication date2010-10-01
P1433published inBest Practice and Research: Clinical GastroenterologyQ15754316
P1476titleThe acute hepatic porphyrias: current status and future challenges
The acute hepatic porphyrias: Current status and future challenges
P478volume24

Reverse relations

cites work (P2860)
Q92001565A Unique Neuropsychiatric Syndrome in Variant Hereditary Coproporphyria: Case Report and Review of the Literature
Q51229898A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease
Q41440547A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen
Q40000652Acute intermittent porphyria precipitated by atazanavir/ritonavir.
Q44098367Anaesthetic management of an obstetric patient with variegate porphyria
Q61806321Benefits of prophylactic heme therapy in severe acute intermittent porphyria
Q36640997Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias
Q36176142Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.
Q33814251Heme acts through the Bach1b/Nrf2a-MafK pathway to regulate exocrine peptidase precursor genes in porphyric zebrafish
Q41129067High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria
Q99204132Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria
Q45234914Kidney transplantation in hereditary coproporphyria using tacrolimus and mycophenolate mofetil: a case report
Q37329207Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series
Q42478276Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria
Q38060346Photosensitivity disorders in children
Q53768007Porphyrias : Metabolic disorders of heme biosynthesis
Q42253045The potential role of cell penetrating peptides in the intracellular delivery of proteins for therapy of erythroid related disorders.
Q37332025Variegate porphyria complicated by systemic AA amyloidosis: a case report.
Q87035960[Diagnosis of the porphyrias : From A (as in aminolevulinic acid) to Z (as in zinc protoporphyrin)]
Q87035962[Neurocutaneous porphyrias]