Associated Papers
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
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
Acute Intermittent Porphyria in Prepubertal Child-diagnostic and Therapeutic Challenges in India: A Case Report and Literature Review.
Sharma AG et al.
Indian Journal of Critical Care Medicine : Peer-reviewed, Official Publication of Indian Society of Critical Care Medicine, 2022
Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients.
Martinez MDC et al.
Molecular Genetics & Genomic Medicine, 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
Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
Morán-Jiménez MJ et al.
Genes, 2020
Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families.
Bronisch O et al.
Annals of Hematology, 2019
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
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
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
Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
Gonzaga AD et al.
Annals of Human Genetics, 2015
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Schneider-Yin X et al.
Journal of Hepatology, 2015
Acute intermittent porphyria in Argentina: an update.
Cerbino GN et al.
Biomed Research International, 2015
An odd case of heteroallelic acute intermittent porphyria in the Argentinean population.
Piñeiro Pauwels MB et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2013
[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
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis.
Ulbrichova-Douderova D et al.
Analytical Biochemistry, 2009
Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.
de Rooij FW et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.
To-Figueras J 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
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
Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.
Guillén-Navarro E et al.
Annals of 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
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
Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients.
Ribeiro GS et al.
Journal of Clinical Laboratory Analysis, 2002
Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.
Schneider-Yin X et al.
Human Heredity, 2002
[Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia].
Surin VL et al.
Genetika, 2001
Diagnosis of latent acute intermittent porphyria by genetic analysis.
De Siervi A et al.
Annals of Clinical Biochemistry, 2001
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
De Siervi A et al.
Human Mutation, 2000
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
Martinez di Montemuros F et al.
Human Mutation, 2000
[The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia].
Pivnik AV et al.
Terapevticheskii Arkhiv, 2000
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
De Siervi A et al.
American Journal of Medical Genetics, 1999
Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).
De Siervi A et al.
Human Mutation, 1999
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
Solis C et al.
Molecular Medicine (cambridge, Mass.), 1999
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
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