Mutation characteristics of primary hyperoxaluria in the Chinese population and current international diagnosis and treatment status

• Κύριοι συγγραφείς: Xingying Zhu (Συγγραφέας), Wai W. Cheung (Συγγραφέας), Aihua Zhang (Συγγραφέας), Guixia Ding (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Karger Publishers, 2024-06-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Background: Primary hyperoxaluria (PH) is a rare autosomal recessive disorder, mainly due to the increase in endogenous oxalate production, causing a series of clinical features such as kidney stones, nephrocalcinosis, progressive impairment of renal function, and systemic oxalosis. There are three...