Primäre Hyperoxalurie Typ I (PH I) evg-analysen Mutations in the ATP7A result

Mutations in the ATP7A result in defective ATP7A transporter so the copper cannot be properly exported from fibroblasts and imported into the liver

Mutation: LGI2 gene

This discovery provides important insights into the biological basis of obesity in dogs and may help in the development of strategies to control weight and improve the health and quality of life of obese dogs

Robinow-like-syndrome

Alpha-2-Antiplasmin ist entscheidend für die Hemmung von Plasmin

Primäre Hyperoxalurie Typ I (PH I) evg-analysen Mutations in the ATP7A resultPrimary hyperoxaluria type I (PH I) is an autosomal recessive disorder of glyoxylate metabolism caused by a defective alanine glyoxylate aminotransferase (AGT) enzyme. It is characterized by the accumulation of oxalate and subsequent precipitation of calcium oxalate crystals, primarily in the kidneys, leading to progressive kidney failure. In later stages of the disease, the crystals are accumulated in other tissues including muscles, retina, joints,