Article
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.
The Journal of pediatrics - 1 Jul 1995
Moser A B, Rasmussen M, Naidu S, Watkins P A, McGuinness M, Hajra A K, Chen G, Raymond G, Liu A, Gordon D
Abstract excerpt
OBJECTIVE: To use the technique of complementation analysis to help define genotype and classify patients with clinical manifestations consistent with those of the disorders of peroxisome assembly, namely the Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP). STUDY DESIGN: Clinical findings, peroxisomal function, and...
Topics
- Acyltransferases
- Adrenoleukodystrophy
- Adult
- Cells, Cultured
- Child
- Fatty Acids
- Female
- Genetic Complementation Test
- Genotype
- Humans
- Male