Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

• Asıl Yazarlar: Jana Konkoľová (Yazar), Ján Chandoga (Yazar), Juraj Kováčik (Yazar), Marcel Repiský (Yazar), Veronika Kramarová (Yazar), Ivana Paučinová (Yazar), Daniel Böhmer (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2017-05-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and...