Associated Papers
A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.
Merati M et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management.
Balwani M et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
An easily overlooked disease in the early stages: acute intermittent porphyria.
Wang J et al.
Bmc Neurology, 2025
Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report.
Li W et al.
Case Reports in Neurological Medicine, 2025
Acute intermittent porphyria: a disease with low penetrance and high heterogeneity.
Lei JJ et al.
Frontiers in Genetics, 2024
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 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
Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.
Hu Y et al.
Clinical Genetics, 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
Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.
Li P et al.
Blood Advances, 2021
Recent advances in the epidemiology and genetics of acute intermittent porphyria.
Ma L et al.
Intractable & Rare Diseases Research, 2020
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
Goncharova M et al.
Clinical Genetics, 2019
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants.
Fortgens P et al.
Journal of Clinical Pathology, 2017
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
Chen B et al.
Human Mutation, 2016
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Fukuda Y et al.
Nature Communications, 2016
Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
Gonzaga AD et al.
Annals of Human Genetics, 2015
DNA mutations of the cat: the good, the bad and the ugly.
Lyons LA
Journal of Feline Medicine and Surgery, 2015
Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man.
Albertyn CH et al.
South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2014
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Dragneva S et al.
Jimd Reports, 2014
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Clavero S et al.
Human Molecular Genetics, 2010
Dual porphyrias revisited.
Poblete-Gutiérrez P et al.
Experimental Dermatology, 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
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
Poblete-Gutiérrez P et al.
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
Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Solis CS et al.
Human Genetics, 2004
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
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
Gregor A et al.
Human Mutation, 2002
Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients.
Ribeiro GS et al.
Journal of Clinical Laboratory Analysis, 2002
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
Solis C et al.
Molecular Medicine (cambridge, Mass.), 1999
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
Puy H et al.
American Journal of Human Genetics, 1997
Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.
Nissen H et al.
Human Mutation, 1997
Review: molecular pathogenesis of hepatic acute porphyrias.
Grandchamp B et al.
Journal of Gastroenterology and Hepatology, 1996
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
Kauppinen R et al.
Human Molecular Genetics, 1995