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Dergiler / Medical Science and Discovery / 2016 / Cilt: 3 Sayı: 5

A case of Zellweger syndrome accompanied by hypertrophic cardiomyopathy

A case of zellweger syndrome accompanied by hypertrophic cardiomyopathy

Yusuf Kale
Istemi Celik
Ferit Kulali
Osman Yilmaz
Ahmet Bas
Nihal Demirel
Sayfa
242–4
Yayın Tarihi
2016-05-15
DOI
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Here we present a newborn with Zellweger syndrome and hypertrophic cardiomyopathy.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Peroxisomal biogenesis disorders are a group of genetically and clinically heterogenous disorders which affect very-long chain fatty acid metabolism.
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Temel Bulgular & Veri: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.
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Sonuç & Katkı:Here we present a newborn with Zellweger syndrome and hypertrophic cardiomyopathy.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Hypertrophic Cardiomyopathy · Zellweger Syndrome · Newborn

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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Bu Makaleye Atıf Yap

Kale, Y., Celik, I., Kulali, F., Yilmaz, O., Bas, A., Demirel, N. (2016). A case of Zellweger syndrome accompanied by hypertrophic cardiomyopathy. Medical Science and Discovery, Cilt: 3 Sayı: 5, 242–4. https://ajindex.com/articles/1003081

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Kaynakça (5)

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