Kamran Ghaedi, Issar Nassiri.
Molecular diagnosis of Peroxisome Biogenesis Disorders; Zelweger Syndrome Spectrum.
Pak Paed J Jan ;32(2):75-81.

A group of congenital diseases known as or Zellweger syndrome spectrum (PBD, ZSS) are include Infantile Refsum`s disease (IRD), neonatal adrenoleukodystrophy (NALD) and Zellweger`s syndrome (ZS). These disorders are characterized by the absence of normal peroxisomes in the cells of the body. Individuals with PBD, ZSS usually come to clinical attention in the newborn period or later in childhood. The diagnosis of PBD, ZSS can be definitively determined by biochemical assays. Measurement of plasma very-long-chain fatty acid (VLCFA) levels is the most commonly used and most informative initial screen. Mutations in thirteen different PEX genes have been identified in PBD, ZSS. Sequence analysis is available clinically for the some PEX genes.

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