Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
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
A case report of acute intermittent porphyria presenting with reversible cerebral vasoconstriction syndrome.
Rao W et al.
Medicine, 2025
Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations.
Schmolly K et al.
Research Square, 2024
The diagnosis of acute intermittent porphyria combined with seizures: Case report.
Wang Z et al.
Medicine, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 2023
First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
Belosevic A et al.
Life (basel, Switzerland), 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
Biorxiv : the Preprint Server for Biology, 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
Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.
Christie MS et al.
Febs Open Bio, 2022
Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.
Molina L et al.
Journal of Hepatology, 2022
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
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Bustad HJ et al.
International Journal of Molecular Sciences, 2021
Prophylactic Heme Arginate Infusion for Acute Intermittent Porphyria.
Kuo HC et al.
Frontiers in Pharmacology, 2021
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Barman-Aksözen J et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 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
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
Structural basis of pyrrole polymerization in human porphobilinogen deaminase.
Pluta P et al.
Biochimica Et Biophysica Acta. General Subjects, 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
Porphyric neuropathies in an acute intermittent porphyria family.
Kuo HC et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2016
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Dragneva S et al.
Jimd Reports, 2014
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
Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Ulbrichova D et al.
Human Genetics, 2010
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis.
Ulbrichova-Douderova D et al.
Analytical Biochemistry, 2009
Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria.
Gill R et al.
The Biochemical Journal, 2009
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
Ulbrichova D et al.
The Febs Journal, 2009
Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism.
Luder AS et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
HMBS mutations in Chinese patients with acute intermittent porphyria.
Yang CC et al.
Annals of Human Genetics, 2008
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
De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study.
Ulbrichova D et al.
Physiological Research, 2006
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
Pischik E et al.
Human Mutation, 2005
Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
Schneider-Yin X et al.
Journal of Inherited Metabolic Disease, 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
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
Gregor A et al.
Human Mutation, 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
Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
Mustajoki S et al.
Molecular Medicine (cambridge, Mass.), 2000
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
Whatley SD et al.
Human Genetics, 1999
Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase.
Ong PM et al.
Molecular and Cellular Probes, 1997
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
Puy H et al.
American Journal of Human Genetics, 1997
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.
Rosipal R et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 1997
Review: molecular pathogenesis of hepatic acute porphyrias.
Grandchamp B et al.
Journal of Gastroenterology and Hepatology, 1996
Detection of four mutations in six unrelated South African patients with acute intermittent porphyria.
Ong PM et al.
Molecular and Cellular Probes, 1996
Porphobilinogen deaminase gene structure and molecular defects.
Deybach JC et al.
Journal of Bioenergetics and Biomembranes, 1995