📂 Diseases
congenital disorder of glycosylation type IIh — Definition
Glikozilasyon Tip IIh Konjenital Bozukluğu / congenital disorder of glycosylation type IIh
Congenital disorder type of glucoselation IIh is a rare genetic disease caused by a defect in the process of glucose and lipids in cells. This disorder occurs as a result of disruptions in the processing of glican chains in endoplasmic reticulum and Golgi device. Clinically, multisystemic findings such as neurological development backrest, hypotoni, coagulopathy and dysmorphic facial properties are observed. The diagnosis, genetic tests and serum transfer isoelectric focus analysis.
Frequently Asked Questions
❓ What is Glikozilasyon Tip IIh Konjenital Bozukluğu?
Glikozilasyon Tip IIh Konjenital Bozukluğu; congenital disorder type of glucoselation IIh is a rare genetic disease caused by a defect in the process of glucose and lipids in cells. This disorder occurs as a result of disruptions in the processing of glican chains in endoplasmic reticulum and Golgi device. Clinically, multisystemic findings such as neurological development backrest, hypotoni, coagulopathy and dysmorphic facial properties are observed. The diagnosis, genetic tests and serum transfer isoelectric focus analysis.
❓ What is congenital disorder of glycosylation type IIh in Turkish?
The Turkish equivalent of "congenital disorder of glycosylation type IIh" is Glikozilasyon Tip IIh Konjenital Bozukluğu.
❓ Which medical field is Glikozilasyon Tip IIh Konjenital Bozukluğu related to?
This term belongs to the Diseases category.