Orphanet J Rare Dis

Results of a non-randomized, open-label phase I study evaluating the novel immunomodulatory peptide TCP-25 for treatment of dystrophic epidermolysis bullosa.

Wallblom K, Holmgren K, Lundgren S, ..., Sonkoly E, Schmidtchen A

Orphanet J Rare Dis 21 (1) 4 [2025-12-02; online 2025-12-02]

High content drug screening for Fanconi anemia therapeutics.

Montanuy H, Camps-Fajol C, Carreras-Puigvert J, ..., Minguillón J, Surrallés J

Orphanet J Rare Dis 15 (1) 170 [2020-06-30; online 2020-06-30]

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

Tegelberg S, Tomašić N, Kallijärvi J, ..., Eklund EA, Fellman V

Orphanet J Rare Dis 12 (1) 73 [2017-04-20; online 2017-04-20]