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A case of zellweger syndrome accompanied by hypertrophic cardiomyopathy
2016
Journal:  
Medical Science and Discovery
Author:  
DOI:  
10.17546/msd.72829
Abstract:

Peroxisomal biogenesis disorders are a group of genetically and clinically heterogenous disorders which affect very-long chain fatty acid metabolism. Zellweger syndrome (ZS) is a rare, congenital disorder characterized by multisystem involvement including central nervous system, skeletal system, liver, kidney and eyes, due to absence of peroxisomes in the cells. Hypertrophic cardiomyopathy (HCM) is defined as septal or posterior wall thickness that is more than two standard deviations above the mean normal thickness measured by echocardiography. Here we present a newborn with Zellweger syndrome and hypertrophic cardiomyopathy.

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Medical Science and Discovery

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 743
Cite : 80
Details
Medical Science and Discovery