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Glikojen Depo Hastalığı Tip IV (Olgu sunumu)

Glycogen Siorage Disease Type IV: A Case Report.

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2002

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
Giycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by a deficiency of glycogen branching enzyme (GBE) activity. Thİs results İn the accumulation of abnormal glycogen in the Uverand other organs. İn this study, the case of a 5-month-old female patient proven GSD-IV with percutaneous needle biopsy is reported and the İmportance of this disease among the causes of cirhosis in İnfancy is stressed.
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Abstract (Original Language): 
Glikojen depo hastalığı tip IV "branching enzim" aktivitesinin yetersizliği ile ortaya çıkan nadir görülen otozamal resesif kalıtımiı bir hastalıktır. Hastalık karaciğer ve diğer organlarda anormal glikojenin birikimi ile sonuçlanır. Çalışmada, karaciğer iğne biyopsisi ile tanı alan 5 aylık bir kız çocuğu sunuldu ve bu tip glikojen depo hastalığının süt çocukluğu döneminde siroz etkenleri arasındaki önemi vurgulandı.
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  • 1
67-70
  • Turkish

REFERENCES

References: 

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