Acute Hepatic Porphyria

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Research Summaries

Research Summary

Research Summary

Neurofilament Light Chain as an Indicator of Neurological Damage in Acute Hepatic Porphyria

11/08/2024

Miranda Manier, BA

New research reveals that elevated serum neurofilament light chain levels correlate with both acute and chronic neurological damage in acute hepatic porphyria, offering clinicians a potential tool for...

11/08/2024

research summary

research summary

Association Between Gene Mutations, Enzyme Activity in Acute Intermittent Porphyria

05/20/2024

Leigh Precopio

Researchers examined the epidemiology of hydroxymethylbilane synthase (HMBS) gene defects and activity levels among patients with acute intermittent porphyria to better understand the role of HMBS activity...

05/20/2024

research summary

research summary

Monthly Treatment Is Safe, Efficacious for Acute Hepatic Porphyria

04/19/2024

Leigh Precopio

Individuals with acute hepatic porphyria often experience acute attacks and chronic symptoms which greatly diminish their quality of life. Researchers examined the efficacy of givosiran in reducing these...

04/19/2024

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