Associated Papers
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
Severe neuropathic attack in a woman with acute intermittent porphyria: a case report.
Huang S et al.
The Journal of International Medical Research, 2021
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
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
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
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
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
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