Maria Daniela D'Agostino

All articles by Maria Daniela D'Agostino

Zellweger Spectrum Disorder

OVERVIEW: What every practitioner needs to know Are you sure your patient has Zellweger Spectrum Disorder? What are the typical findings for this disease? The peroxisome biogenesis disorders (PBD) include two phenotype groups: 1. Zellweger Spectrum Disorder (ZSD) a. Zellweger syndrome (ZS) = severe b. Neonatal adrenoleukodystrophy (NALD) = intermediate c. Infantile Refsum disease (IRD)…

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