- The first polymorphism causing an amino acid exchange in the ALDP-gene. Eight novel mutations and three polymorphisms in patients with X-linked adrenoleukodystrophyPublication without faculty affiliation
- X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients2012 | First Faculty of Medicine
- X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations2021 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
