Associated Papers
Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.
Abdoalsadig E et al.
Orphanet Journal of Rare Diseases, 2025
A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy.
Shmara A et al.
Orphanet Journal of Rare Diseases, 2022
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Dragneva S et al.
Jimd Reports, 2014
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 basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Astrin KH et al.
Human Mutation, 1994
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