Article
Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.
The Journal of pediatrics - 1 Oct 1995
Poulos A, Christodoulou J, Chow C W, Goldblatt J, Paton B C, Orii T, Suzuki Y, Shimozawa N
Abstract excerpt
We describe the clinical, pathologic, and biochemical findings for two peroxisome-deficient patients in a newly identified complementation group. Both patients had biochemical findings typical of patients with peroxisome biogenesis disorders. However, whereas one patient had the typical clinicopa...
Topics
- Catalase
- Cell Fusion
- Consanguinity
- Fibroblasts
- Genetic Complementation Test
- Humans
- Infant
- Infant, Newborn
- Male
- Microbodies
- Peroxisomal Disorders
- Phenotype
- Plasma
- Zellweger Syndrome