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 scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Cracking rare disorders: a new minimally invasive RNA-seq protocol.
De Cock L et al.
Npj Genomic Medicine, 2025
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Ahn JH et al.
Npj Genomic Medicine, 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
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
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
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
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
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
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
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
Eslicarbazepine for focal epilepsy and acute intermittent porphyria.
Herrera-Fortin T et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2020
Penetrance and predictive value of genetic screening in acute porphyria.
Baumann K et al.
Molecular Genetics and Metabolism, 2020
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
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
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
Many pitfalls in diagnosis of acute intermittent porphyria: a case report.
Indika NLR et al.
Bmc Research Notes, 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
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
Purple pigments: the pathophysiology of acute porphyric neuropathy.
Lin CS et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2011
[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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
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
Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.
Fraunberg MVUZ et al.
Medicine, 2005
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
Solis C et al.
Archives of Neurology, 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
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
Gene-environmental interactions: Lessons from porphyria.
Sassa S
Environmental Health and Preventive Medicine, 2003