EC Number   |
Application |
Reference |
|---|
   3.6.4.7 | medicine |
- |
210588, 210589, 210590 |
| 3.6.4.7 | medicine |
autosomal recessive mutations in the PEX genes cause peroxisome biogenesis disorders, such as Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease |
668578 |
| 3.6.4.7 | medicine |
development of gene therapy, restoring of peroxisome assemblyby gene transfer to fibroblasts of Zellweger syndrome group C patients |
210589 |
| 3.6.4.7 | medicine |
diagnosis of inherited peroxisome-deficient diseases such as Zellweger syndrome by functional complementation |
210588 |
| 3.6.4.7 | medicine |
more than 80% of all patients with Zellweger syndrome, the most severe peroxisome biogenesis disorder, carry mutations in Pex1p or Pex6p |
685048 |
| 3.6.4.7 | medicine |
patients with Zellweger syndrome carry mutations in Pex1p or Pex6p |
685047 |
| 3.6.4.7 | medicine |
phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 |
654490 |
