Authors:
Schuurmans, MM
Schneider-Yin, X
Rufenacht, UB
Schnyder, C
Minder, CE
Puy, H
Deybach, JC
Minder, EI
Citation: Mm. Schuurmans et al., Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among swiss patients, MOL MED, 7(8), 2001, pp. 535-542
Authors:
Schneider-Yin, X
Gouya, L
Meier-Weinand, A
Deybach, JC
Minder, EI
Citation: X. Schneider-yin et al., New insights into the pathogenesis of erythropoietic protoporphyria and their impact an patient care, EUR J PED, 159(10), 2000, pp. 719-725
Authors:
Schneider-Yin, X
Bogard, C
Rufenacht, UB
Puy, H
Nordmann, Y
Minder, EI
Deybach, JC
Citation: X. Schneider-yin et al., Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria, HUMAN HERED, 50(4), 2000, pp. 247-250
Authors:
Rufenacht, UB
Schneider-Yin, X
Schafer, BW
Taketani, S
Deybach, JCP
Minder, EI
Citation: Ub. Rufenacht et al., Rapid molecular diagnosis of erythropoietic protoporphyria among Swiss patients, CLIN CH L M, 36(10), 1998, pp. 763-765