Associated Papers
Acute porphyrias - A neurological perspective.
Gerischer LM et al.
Brain and Behavior, 2021
Recent advances in the epidemiology and genetics of acute intermittent porphyria.
Ma L et al.
Intractable & Rare Diseases Research, 2020
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
Goncharova M et al.
Clinical Genetics, 2019
[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
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
Pischik E et al.
Human Mutation, 2005
[Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia].
Surin VL et al.
Genetika, 2001
[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
Select a paper to view details