Search Results - "Lipniacka, Agnieszka"

Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria by Szlendak, Urszula, Bykowska, Ksenia, Lipniacka, Agnieszka

“…Porphyrias are diverse disorders that arise from various inherited enzyme defects in the heme biosynthesis pathway, except for porphyria cutanea tarda (PCT),…”
Get full text

Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria by Szlendak, Urszula, Lipniacka, Agnieszka, Bianketti, Jolanta, Podolak-Dawidziak, Maria, Bykowska, Ksenia

“…Acute intermittent porphyria (AIP) is an metabolic disorder characterized by a partial deficiency of the porphobilinogen deaminase, the enzyme of heme…”
Get full text

Acute intermittent porphyria and oral contraception. Case report by Bianketti, Jolanta, Lipniacka, Agnieszka, Szlendak, Urszula, Gregor, Anita

“…Acute intermittent porphyria is the most common type of porphyria occurring in Poland. Its characteristic feature is periods of remissions and aggravations…”
Get more information

Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria by Gregor, Anita, Schneider-Yin, Xiaoye, Szlendak, Urszula, Wettstein, Albert, Lipniacka, Agnieszka, Rüfenacht, Urszula B, Minder, Elisabeth I

“…Acute intermittent porphyria (AIP), an autosomal dominant disorder of heme biosynthesis, is due to mutations in hydroxymethylbilane synthase (HMBS; or…”
Get full text

Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria: Mutations in Brief by Gregor, Anita, Schneider-Yin, Xiaoye, Szlendak, Urszula, Wettstein, Albert, Lipniacka, Agnieszka, Rüfenacht, Urszula B., Minder, Elisabeth I.

Get full text

Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria by Gregor, Anita, Schneider-Yin, Xiaoye, Szlendak, Urszula, Wettstein, Albert, Lipniacka, Agnieszka, Rüfenacht, Urszula B., Minder, Elisabeth I.

“…Acute intermittent porphyria (AIP), an autosomal dominant disorder of heme biosynthesis, is due to mutations in hydroxymethylbilane synthase (HMBS; or…”
Get full text