Associated Papers
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.
Schacht G et al.
Journal of Medical Case Reports, 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
Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome.
Handa H et al.
Bmc Neurology, 2025
An easily overlooked disease in the early stages: acute intermittent porphyria.
Wang J et al.
Bmc Neurology, 2025
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran.
Kuo HC et al.
Molecular Genetics and Metabolism Reports, 2024
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
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
HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.
Li S et al.
Medicine, 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
Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.
Wang X 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
Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.
Sriprakoon V et al.
The American Journal of Case Reports, 2022
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
Cutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution.
Longo M et al.
Biomedicines, 2022
Givosiran in acute intermittent porphyria: A personalized medicine approach.
Poli A et al.
Molecular Genetics and Metabolism, 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
A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria.
Ghosh R et al.
Qatar Medical Journal, 2022
The crystal structures of the enzyme hydroxymethylbilane synthase, also known as porphobilinogen deaminase.
Helliwell JR
Acta Crystallographica. Section F, Structural Biology Communications, 2021
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
To-Figueras J et al.
Journal of Inherited Metabolic Disease, 2021
Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism.
Bustad HJ et al.
Iscience, 2021
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
Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.
Li P et al.
Blood Advances, 2021
Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.
Linenberger M et al.
Hematology. American Society of Hematology. Education Program, 2020
Recent advances in the epidemiology and genetics of acute intermittent porphyria.
Ma L et al.
Intractable & Rare Diseases Research, 2020
Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
Morán-Jiménez MJ et al.
Genes, 2020
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.
Gouya L et al.
Hepatology (baltimore, Md.), 2020
Penetrance and predictive value of genetic screening in acute porphyria.
Baumann K et al.
Molecular Genetics and Metabolism, 2020
Acute intermittent porphyria (AIP) in a patient with celiac disease.
Nunnemann S et al.
Neurological Research and Practice, 2020
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Chen B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias.
Dixon N et al.
Molecular Genetics and Metabolism, 2019
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
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
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
Acute Intermittent Porphyria: Current Perspectives And Case Presentation.
Spiritos Z et al.
Therapeutics and Clinical Risk Management, 2019
Many pitfalls in diagnosis of acute intermittent porphyria: a case report.
Indika NLR et al.
Bmc Research Notes, 2018
Cerebral vasospasm in acute porphyria.
Olivier P et al.
European Journal of Neurology, 2017
Acute Intermittent Porphyria in children: A case report and review of the literature.
Balwani M et al.
Molecular Genetics and Metabolism, 2016
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series.
Willandt B et al.
Jimd Reports, 2016
Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center.
Yang J et al.
Biomed Research International, 2016