Peroxisome mosaicism in the livers of peroxisomal deficiency patients
Marc Espeel, Hanna Mandel, Florence Poggi, Jan A. M. Smeitink, Ronald J. A. Wanders, Ingrid Kerckaert, Rudolf B. H. Schutgens, Jean‐Marie Saudubray, Bwee‐Tien Poll‐The, Frank Roels – 1 August 1995 – Peroxisomal deficiency disorders, which are genetically transmitted, are assumed to be expressed in all cells, and the use of cultured skin fibroblasts for diagnosis and research is based on this assumption. We describe three patients with clinical, biochemical, and microscopic evidence of a peroxisomal disorder.