Associated Papers
Liver transplantation and primary liver cancer in porphyria.
Lissing M et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
Practical recommendations for biochemical and genetic diagnosis of the porphyrias.
Aarsand AK et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
Acute intermittent porphyria: a disease with low penetrance and high heterogeneity.
Lei JJ et al.
Frontiers in Genetics, 2024
A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria.
Malagon-Rangel J et al.
Clinical Case Reports, 2023
Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review.
Ren Y et al.
Frontiers in Genetics, 2023
Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.
Wang X et al.
Frontiers in Genetics, 2023
A case report of acute intermittent porphyria leading to severe disability.
Lin J et al.
Frontiers in Neurology, 2023
Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
Lissing M et al.
Journal of Internal Medicine, 2022
Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China.
Ma L et al.
Annals of Translational Medicine, 2022
Cutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution.
Longo M et al.
Biomedicines, 2022
A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria.
Ghosh R et al.
Qatar Medical Journal, 2022
Recent advances in the epidemiology and genetics of acute intermittent porphyria.
Ma L et al.
Intractable & Rare Diseases Research, 2020
Penetrance and predictive value of genetic screening in acute porphyria.
Baumann K et al.
Molecular Genetics and Metabolism, 2020
Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene.
Yang J et al.
Orphanet Journal of Rare Diseases, 2020
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
Goncharova M et al.
Clinical Genetics, 2019
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Barreda-Sánchez M et al.
Orphanet Journal of Rare Diseases, 2019
Many pitfalls in diagnosis of acute intermittent porphyria: a case report.
Indika NLR et al.
Bmc Research Notes, 2018
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.
Lenglet H et al.
Human Molecular Genetics, 2018
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
Chen B et al.
Human Mutation, 2016
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Schneider-Yin X et al.
Journal of Hepatology, 2015
Purple pigments: the pathophysiology of acute porphyric neuropathy.
Lin CS et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2011
[Clinical and neuroimaging features of central nervous system impairments in acute intermittent porphyria].
Yuan J et al.
Zhonghua Yi Xue Za Zhi, 2011
Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.
Paradisi I et al.
Journal of Inherited Metabolic Disease, 2010
Combined liver and kidney transplantation in acute intermittent porphyria.
Wahlin S et al.
Transplant International : Official Journal of the European Society for Organ Transplantation, 2010
[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].
Surin VL et al.
Genetika, 2010
Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.
de Rooij FW et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study.
Bylesjö I et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2009
HMBS mutations in Chinese patients with acute intermittent porphyria.
Yang CC et al.
Annals of Human Genetics, 2008
Safe usage of isotretinoin in a woman with latent acute intermittent porphyria.
Storjord E et al.
Acta Dermato-venereologica, 2007
Biochemical compared to molecular diagnosis in acute intermittent porphyria.
Grob U et al.
Journal of Inherited Metabolic Disease, 2006
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
Hrdinka M et al.
Physiological Research, 2006
(Far) Outside the box: genomic approach to acute porphyria.
Thunell S
Physiological Research, 2006
Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.
Fraunberg MVUZ et al.
Medicine, 2005
Molecular mechanisms of dominant expression in porphyria.
Badminton MN et al.
Journal of Inherited Metabolic Disease, 2005
Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.
Guillén-Navarro E et al.
Annals of Human Genetics, 2004
Molecular diagnostics of acute intermittent porphyria.
Kauppinen R
Expert Review of Molecular Diagnostics, 2004
Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Solis CS et al.
Human Genetics, 2004
Brain magnetic resonance imaging white-matter lesions and cerebrospinal fluid findings in patients with acute intermittent porphyria.
Bylesjö I et al.
European Neurology, 2004
Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation.
Shoolingin-Jordan PM et al.
Biochemical Society Transactions, 2003
Gene-environmental interactions: Lessons from porphyria.
Sassa S
Environmental Health and Preventive Medicine, 2003
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Kauppinen R et al.
Clinical Chemistry, 2002
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.
Floderus Y et al.
Clinical Genetics, 2002
[Acute intermittent porphyria].
Tollåli G et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke, 2002
Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients.
Ribeiro GS et al.
Journal of Clinical Laboratory Analysis, 2002
Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.
Schneider-Yin X et al.
Human Heredity, 2002
Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.
Schuurmans MM et al.
Molecular Medicine (cambridge, Mass.), 2001
[Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia].
Surin VL et al.
Genetika, 2001
The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.
Andersson C et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2000
[The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia].
Pivnik AV et al.
Terapevticheskii Arkhiv, 2000