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
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report.
Clark J et al.
Jimd 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
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
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
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.
M K et al.
American Journal of Medical Genetics. Part A, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 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
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Cutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution.
Longo M et al.
Biomedicines, 2022
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
Stutterd CA et al.
American Journal of Medical Genetics. Part A, 2021
α-Lipoic Acid Improves Hepatic Metabolic Dysfunctions in Acute Intermittent Porphyria: A Proof-of-Concept Study.
Longo M et al.
Diagnostics (basel, Switzerland), 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
Recent advances in the epidemiology and genetics of acute intermittent porphyria.
Ma L et al.
Intractable & Rare Diseases Research, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria.
Berger S et al.
Acta Neuropathologica Communications, 2020
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).
Bonkovsky HL et al.
Molecular Genetics and Metabolism, 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
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
Yasuda M et al.
Human Molecular Genetics, 2019
Acute Hepatic Porphyrias: Review and Recent Progress.
Wang B et al.
Hepatology Communications, 2019
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
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 in children: A case report and review of the literature.
Balwani M et al.
Molecular Genetics and Metabolism, 2016
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
Chen B et al.
Human Mutation, 2016
Acute intermittent porphyria-related leukoencephalopathy.
Kevelam SH et al.
Neurology, 2016
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
Bustad HJ et al.
Bioscience Reports, 2013
Circadian rhythms in acute intermittent porphyria--a pilot study.
Larion S et al.
European Journal of Clinical Investigation, 2013
Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria.
Gill R et al.
The Biochemical Journal, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Acute intermittent porphyria as a cause of respiratory failure: case report.
Asselbergs FW et al.
American Journal of Critical Care : an Official Publication, American Association of Critical-care Nurses, 2009
Structural insight into acute intermittent porphyria.
Song G et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009
Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Ulbrichova D et al.
Human Genetics, 2008