The peroxisome biogenesis disorders (PBDs) are a group of neuronal migration/neurodegenerative disorders that arise from defects in PEX genes. A major subgroup of the PBDs includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). These three disorder
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype
✍ Scribed by J. Gärtner; N. Preuss; U. Brosius; M. Biermanns
- Book ID
- 110226240
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 48 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0141-8955
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## Abstract Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal
Diseases of the Zellweger spectrum represent a major subgroup of the peroxisome biogenesis disorders, a group of autosomal-recessive diseases that are characterized by widespread tissue pathology, including neurodegeneration. The Zellweger spectrum represents a clinical continuum, with Zellweger syn