A-case-report-of-zellweger-syndrome-with-global-deveopmental-delay
Artículo
| IMSEAR
| ID: sea-218806
ABSTRACT
Peroxisome biogenesis disorder are related to spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterized by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal defects. We report a case of Zellweger syndrome, confirmed by clinical, biochemical and molecular findings, diagnosed in context of dysmorphism, and seizures.
Texto completo:
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Índice:
IMSEAR (Asia Sudoriental)
Año:
2023
Tipo del documento:
Artículo
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